PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 24718895-0 2014 FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion. polyglutamine 66-79 ataxin 2 Homo sapiens 28-32 24718895-0 2014 FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion. polyglutamine 66-79 ataxin 2 Homo sapiens 57-65 24718895-1 2014 Polyglutamine expansions in the ataxin-2 gene (ATXN2) cause autosomal dominant spinocerebellar ataxia type 2 (SCA2), but have recently also been associated with amyotrophic lateral sclerosis (ALS). polyglutamine 0-13 ataxin 2 Homo sapiens 32-40 24718895-1 2014 Polyglutamine expansions in the ataxin-2 gene (ATXN2) cause autosomal dominant spinocerebellar ataxia type 2 (SCA2), but have recently also been associated with amyotrophic lateral sclerosis (ALS). polyglutamine 0-13 ataxin 2 Homo sapiens 47-52 24718895-1 2014 Polyglutamine expansions in the ataxin-2 gene (ATXN2) cause autosomal dominant spinocerebellar ataxia type 2 (SCA2), but have recently also been associated with amyotrophic lateral sclerosis (ALS). polyglutamine 0-13 ataxin 2 Homo sapiens 110-114 24718895-3 2014 The index case shares the molecular signature of SCA2 with prominent polyglutamine and p62-positive intranuclear neuronal inclusions mainly in the pontine nuclei, while harbouring more pronounced neocortical and spinal TDP-43 pathology. polyglutamine 69-82 ataxin 2 Homo sapiens 49-53 34350994-1 2022 Polyglutamine repeat expansions in the Ataxin-2 (ATXN2) gene were first implicated in Spinocerebellar Ataxia Type 2, a disease associated with degeneration of motor neurons and Purkinje cells. polyglutamine 0-13 ataxin 2 Homo sapiens 39-47 34350994-1 2022 Polyglutamine repeat expansions in the Ataxin-2 (ATXN2) gene were first implicated in Spinocerebellar Ataxia Type 2, a disease associated with degeneration of motor neurons and Purkinje cells. polyglutamine 0-13 ataxin 2 Homo sapiens 49-54 34845184-3 2021 The mutation causing SCA2 disease is an abnormal expansion of CAG trinucleotide repeats in the ATXN2 gene, leading to a toxic expanded polyglutamine segment in the translated ataxin-2 protein. polyglutamine 135-148 ataxin 2 Homo sapiens 95-100 34845184-3 2021 The mutation causing SCA2 disease is an abnormal expansion of CAG trinucleotide repeats in the ATXN2 gene, leading to a toxic expanded polyglutamine segment in the translated ataxin-2 protein. polyglutamine 135-148 ataxin 2 Homo sapiens 175-183 34390268-2 2021 The mutant ATXN2 protein with a polyglutamine tract is known to be toxic and contributes to the SCA2 pathogenesis. polyglutamine 32-45 ataxin 2 Homo sapiens 11-16 34390268-2 2021 The mutant ATXN2 protein with a polyglutamine tract is known to be toxic and contributes to the SCA2 pathogenesis. polyglutamine 32-45 ataxin 2 Homo sapiens 96-100 29869836-2 2018 Genetic expansion of a poly-glutamine tract in human ATXN2 has been implicated in several neurodegenerative diseases, likely acting through gain-of-function effects. polyglutamine 23-37 ataxin 2 Homo sapiens 53-58 31435879-1 2019 The effective therapeutic treatment and the disease-modifying therapy for spinocerebellar ataxia type 2 (SCA2) (a progressive hereditary disease caused by an expansion of polyglutamine in the ataxin-2 protein) is not available yet. polyglutamine 171-184 ataxin 2 Homo sapiens 74-103 31435879-1 2019 The effective therapeutic treatment and the disease-modifying therapy for spinocerebellar ataxia type 2 (SCA2) (a progressive hereditary disease caused by an expansion of polyglutamine in the ataxin-2 protein) is not available yet. polyglutamine 171-184 ataxin 2 Homo sapiens 105-109 31435879-1 2019 The effective therapeutic treatment and the disease-modifying therapy for spinocerebellar ataxia type 2 (SCA2) (a progressive hereditary disease caused by an expansion of polyglutamine in the ataxin-2 protein) is not available yet. polyglutamine 171-184 ataxin 2 Homo sapiens 192-200 30707359-7 2019 We show its usefulness by performing a comparative study of the interactome of the nine polyglutamine (polyQ) disease proteins, namely androgen receptor (AR), atrophin-1 (ATN1), ataxin 1 (ATXN1), ataxin 2 (ATXN2), ataxin 3 (ATXN3), ataxin 7 (ATXN7), calcium voltage-gated channel subunit alpha1 A (CACNA1A), Huntingtin (HTT), and TATA-binding protein (TBP). polyglutamine 88-101 ataxin 2 Homo sapiens 196-204 30707359-7 2019 We show its usefulness by performing a comparative study of the interactome of the nine polyglutamine (polyQ) disease proteins, namely androgen receptor (AR), atrophin-1 (ATN1), ataxin 1 (ATXN1), ataxin 2 (ATXN2), ataxin 3 (ATXN3), ataxin 7 (ATXN7), calcium voltage-gated channel subunit alpha1 A (CACNA1A), Huntingtin (HTT), and TATA-binding protein (TBP). polyglutamine 88-101 ataxin 2 Homo sapiens 206-211 30718627-1 2019 Spinocerebellar ataxias 2 and 3 (SCA2 and SCA3) are dominantly inherited neurodegenerative diseases caused by expansion of polyglutamine-encoding CAG repeats in the affected genes. polyglutamine 123-136 ataxin 2 Homo sapiens 33-37 30473770-3 2018 Polyglutamine (polyQ) expansion diseases ( ATXN1/SCA1, ATXN2/SCA2, ATXN3/SCA3, CACNA1A/SCA6, ATXN7/SCA7, TBP/SCA17, and ATN1/DRPLA) are the most common group of SCAs. polyglutamine 0-13 ataxin 2 Homo sapiens 55-60 30473770-3 2018 Polyglutamine (polyQ) expansion diseases ( ATXN1/SCA1, ATXN2/SCA2, ATXN3/SCA3, CACNA1A/SCA6, ATXN7/SCA7, TBP/SCA17, and ATN1/DRPLA) are the most common group of SCAs. polyglutamine 0-13 ataxin 2 Homo sapiens 61-65 30417124-3 2018 ATXN2 polyglutamine expansion drives neurodegeneration causing spinocerebellar ataxia type 2 and promoting amyotrophic lateral sclerosis. polyglutamine 6-19 ataxin 2 Homo sapiens 0-5 34565721-2 2021 Several reports revealed that CAG repeats in some polyQ-containing genes may affect the age at onset (AAO) of patients with SCA2, however, little studies were conducted among Chinese patients with SCA2. polyglutamine 50-55 ataxin 2 Homo sapiens 124-128 35521889-1 2022 Intermediate CAG (polyQ) expansions in the gene ataxin-2 (ATXN2) are now recognized as a risk factor for ALS. polyglutamine 18-23 ataxin 2 Homo sapiens 48-56 35521889-1 2022 Intermediate CAG (polyQ) expansions in the gene ataxin-2 (ATXN2) are now recognized as a risk factor for ALS. polyglutamine 18-23 ataxin 2 Homo sapiens 58-63 35521889-3 2022 We investigated the presence of ATXN2 polyQ expansions in 9,268 DNA samples collected from people with ALS, ALS with frontotemporal dementia (ALSFTD), FTD alone, Lewy body dementia (LBD) and age matched controls. polyglutamine 38-43 ataxin 2 Homo sapiens 32-37 35521889-4 2022 This analysis confirmed ATXN2 intermediate polyQ expansions of >=31 as a risk factor for ALS with an odds ratio of 6.31. polyglutamine 43-48 ataxin 2 Homo sapiens 24-29 35521889-8 2022 These new data confirm >=31 polyQ repeats in ATXN2 increase the risk for ALS and also for the first time show an even greater risk for ALSFTD. polyglutamine 28-33 ataxin 2 Homo sapiens 45-50 35511239-0 2022 Parallel Appearance of Polyglutamine and Transactivation-Responsive DNA-Binding Protein 43 and Their Complementary Subcellular Localization in Brains of Patients With Spinocerebellar Ataxia Type 2. polyglutamine 23-36 ataxin 2 Homo sapiens 167-196 35511239-1 2022 Spinocerebellar ataxia type 2 (SCA2) is caused by mutations in the ATXN2 gene in which toxic effects are triggered by expanded polyglutamine repeats within ataxin-2. polyglutamine 127-140 ataxin 2 Homo sapiens 0-29 35511239-1 2022 Spinocerebellar ataxia type 2 (SCA2) is caused by mutations in the ATXN2 gene in which toxic effects are triggered by expanded polyglutamine repeats within ataxin-2. polyglutamine 127-140 ataxin 2 Homo sapiens 31-35 35511239-1 2022 Spinocerebellar ataxia type 2 (SCA2) is caused by mutations in the ATXN2 gene in which toxic effects are triggered by expanded polyglutamine repeats within ataxin-2. polyglutamine 127-140 ataxin 2 Homo sapiens 67-72 35511239-1 2022 Spinocerebellar ataxia type 2 (SCA2) is caused by mutations in the ATXN2 gene in which toxic effects are triggered by expanded polyglutamine repeats within ataxin-2. polyglutamine 127-140 ataxin 2 Homo sapiens 156-164 32962458-1 2020 INTRODUCTION: Six of the most frequent dominantly inherited spinocerebellar ataxias (SCAs) worldwide - SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 - are caused by an expansion of a polyglutamine (polyQ) tract in the corresponding proteins. polyglutamine 177-190 ataxin 2 Homo sapiens 109-113 32962458-1 2020 INTRODUCTION: Six of the most frequent dominantly inherited spinocerebellar ataxias (SCAs) worldwide - SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 - are caused by an expansion of a polyglutamine (polyQ) tract in the corresponding proteins. polyglutamine 192-197 ataxin 2 Homo sapiens 109-113 32581696-1 2020 Polyglutamine spinocerebellar ataxias (polyQ SCAs) include SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 and constitute a group of adult onset neurodegenerative disorders caused by the expansion of a CAG repeat sequence located within the coding region of specific genes, which translates into polyglutamine tract in the corresponding proteins. polyglutamine 0-13 ataxin 2 Homo sapiens 65-69 32581673-2 2020 These polyQ SCAs (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17) are inherited neurodegenerative diseases characterized by the progressive atrophy of the cerebellum and connected regions of the nervous system, which leads to loss of fine muscle movement coordination. polyglutamine 6-11 ataxin 2 Homo sapiens 24-28 33324888-2 2019 This neurodegenerative disorder is caused by the expansion of a polyglutamine domain in ataxin-2. polyglutamine 64-77 ataxin 2 Homo sapiens 88-96 27494456-9 2017 Intermediate size of polyglutamine repeats within Ataxin-2 (ATXN2) is an important genetic modifier of ALS-FTD. polyglutamine 21-34 ataxin 2 Homo sapiens 50-58 28527524-6 2017 Intermediate length polyQ expansions (27Qs-32Qs) in the ATXN2 gene were detected in 6 of the 127 sporadic ALS patients and 2 of the 127 of the healthy controls. polyglutamine 20-25 ataxin 2 Homo sapiens 56-61 30194296-1 2018 Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by expansion of polyglutamine tract in the ATXN2 protein. polyglutamine 91-104 ataxin 2 Homo sapiens 0-29 30194296-1 2018 Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by expansion of polyglutamine tract in the ATXN2 protein. polyglutamine 91-104 ataxin 2 Homo sapiens 31-35 30194296-1 2018 Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by expansion of polyglutamine tract in the ATXN2 protein. polyglutamine 91-104 ataxin 2 Homo sapiens 118-123 29653012-3 2018 A CAG repeat expansion in the coding region of ATXN2 gene can cause extension of polyglutamine chain in the protein. polyglutamine 81-94 ataxin 2 Homo sapiens 47-52 29427103-2 2018 Because the CAG repeat expansion is localized to an encoded region of ATXN2, the result is an expanded polyglutamine (polyQ) tract in the ATXN2 protein. polyglutamine 103-116 ataxin 2 Homo sapiens 70-75 29427103-2 2018 Because the CAG repeat expansion is localized to an encoded region of ATXN2, the result is an expanded polyglutamine (polyQ) tract in the ATXN2 protein. polyglutamine 103-116 ataxin 2 Homo sapiens 138-143 29427103-2 2018 Because the CAG repeat expansion is localized to an encoded region of ATXN2, the result is an expanded polyglutamine (polyQ) tract in the ATXN2 protein. polyglutamine 118-123 ataxin 2 Homo sapiens 70-75 29427103-2 2018 Because the CAG repeat expansion is localized to an encoded region of ATXN2, the result is an expanded polyglutamine (polyQ) tract in the ATXN2 protein. polyglutamine 118-123 ataxin 2 Homo sapiens 138-143 29080331-0 2018 OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. polyglutamine 47-52 ataxin 2 Homo sapiens 21-26 29080331-4 2018 In addition to the C9orf72 expansion, we observed an ATXN2 polyQ intermediate length expansion, and OPTN p.Met468Arg in patients who exhibited ALS and FTD or bvFTD. polyglutamine 59-64 ataxin 2 Homo sapiens 53-58 27494456-9 2017 Intermediate size of polyglutamine repeats within Ataxin-2 (ATXN2) is an important genetic modifier of ALS-FTD. polyglutamine 21-34 ataxin 2 Homo sapiens 60-65 24954906-7 2014 We also found that disease-associated polyglutamine expansion downregulates the physiological activity of Ataxin-2. polyglutamine 38-51 ataxin 2 Homo sapiens 106-114 26861241-0 2017 Effects of the enlargement of polyglutamine segments on the structure and folding of ataxin-2 and ataxin-3 proteins. polyglutamine 30-43 ataxin 2 Homo sapiens 85-93 26861241-3 2017 In this study, using the I-TASSER method for 3D structure prediction, we investigated the effect of poly-Q tract enlargement on the structure and folding of ataxin-2 and ataxin-3 proteins. polyglutamine 100-106 ataxin 2 Homo sapiens 157-165 27531668-3 2016 The ATXN2 CAG repeat is translated into polyglutamine, and SCA2 pathogenesis has been thought to derive from ATXN2 protein containing an expanded polyglutamine tract. polyglutamine 40-53 ataxin 2 Homo sapiens 4-9 27531668-3 2016 The ATXN2 CAG repeat is translated into polyglutamine, and SCA2 pathogenesis has been thought to derive from ATXN2 protein containing an expanded polyglutamine tract. polyglutamine 146-159 ataxin 2 Homo sapiens 4-9 27531668-3 2016 The ATXN2 CAG repeat is translated into polyglutamine, and SCA2 pathogenesis has been thought to derive from ATXN2 protein containing an expanded polyglutamine tract. polyglutamine 146-159 ataxin 2 Homo sapiens 59-63 27531668-3 2016 The ATXN2 CAG repeat is translated into polyglutamine, and SCA2 pathogenesis has been thought to derive from ATXN2 protein containing an expanded polyglutamine tract. polyglutamine 146-159 ataxin 2 Homo sapiens 109-114 26510381-1 2016 Expansion of polyglutamine (CAG) triplets within the coding gene ataxin 2 results in transcriptional repression, forming the molecular basis of the neurodegenerative disorder named spinocerebellar ataxia type-2 (SCA2). polyglutamine 13-26 ataxin 2 Homo sapiens 65-73 26510381-1 2016 Expansion of polyglutamine (CAG) triplets within the coding gene ataxin 2 results in transcriptional repression, forming the molecular basis of the neurodegenerative disorder named spinocerebellar ataxia type-2 (SCA2). polyglutamine 13-26 ataxin 2 Homo sapiens 181-210 26510381-1 2016 Expansion of polyglutamine (CAG) triplets within the coding gene ataxin 2 results in transcriptional repression, forming the molecular basis of the neurodegenerative disorder named spinocerebellar ataxia type-2 (SCA2). polyglutamine 13-26 ataxin 2 Homo sapiens 212-216 27103069-2 2016 Ataxin-2 with intermediate length of polyglutamine expansions (Ataxin-2 Q30x) is a genetic modifier of the disease. polyglutamine 37-50 ataxin 2 Homo sapiens 0-8 27103069-2 2016 Ataxin-2 with intermediate length of polyglutamine expansions (Ataxin-2 Q30x) is a genetic modifier of the disease. polyglutamine 37-50 ataxin 2 Homo sapiens 63-71 26733254-10 2016 In our large study on Italian and Sardinian ALS patients with C9ORF72 GGGGCC hexanucleotide repeat expansion, compared to age-, gender- and ethnic-matched controls, ATXN2 polyQ intermediate length does not represent a modifier of ALS risk, differently from non-C9ORF72 mutated patients. polyglutamine 171-176 ataxin 2 Homo sapiens 165-170 26208502-1 2015 Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine 63-68 ataxin 2 Homo sapiens 77-84 26208502-1 2015 Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine 63-68 ataxin 2 Homo sapiens 86-91 25527265-0 2015 ATXN2 polyQ intermediate repeats are a modifier of ALS survival. polyglutamine 6-11 ataxin 2 Homo sapiens 0-5 25527265-1 2015 OBJECTIVE: To analyze the frequency and clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) with intermediate-length (CAG) expansion (encoding 27-33 glutamines, polyQ) in the ATXN2 gene, in a population-based cohort of Italian patients with ALS (discovery cohort), and to replicate the findings in an independent cohort of consecutive patients from an ALS tertiary center (validation cohort). polyglutamine 187-192 ataxin 2 Homo sapiens 201-206 25527265-8 2015 CONCLUSIONS: ATXN2 polyQ intermediate-length repeat is a modifier of ALS survival. polyglutamine 19-24 ataxin 2 Homo sapiens 13-18 25098532-0 2014 Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. polyglutamine 35-40 ataxin 2 Homo sapiens 16-21 25098532-1 2014 OBJECTIVE: The aim of this study was to establish the frequency of ATXN2 polyglutamine (polyQ) expansion in large cohorts of patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP), and to evaluate whether ATXN2 could act as a modifier gene in patients carrying the C9orf72 expansion. polyglutamine 73-86 ataxin 2 Homo sapiens 67-72 25098532-1 2014 OBJECTIVE: The aim of this study was to establish the frequency of ATXN2 polyglutamine (polyQ) expansion in large cohorts of patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP), and to evaluate whether ATXN2 could act as a modifier gene in patients carrying the C9orf72 expansion. polyglutamine 73-86 ataxin 2 Homo sapiens 273-278 25098532-1 2014 OBJECTIVE: The aim of this study was to establish the frequency of ATXN2 polyglutamine (polyQ) expansion in large cohorts of patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP), and to evaluate whether ATXN2 could act as a modifier gene in patients carrying the C9orf72 expansion. polyglutamine 88-93 ataxin 2 Homo sapiens 67-72 25098532-1 2014 OBJECTIVE: The aim of this study was to establish the frequency of ATXN2 polyglutamine (polyQ) expansion in large cohorts of patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP), and to evaluate whether ATXN2 could act as a modifier gene in patients carrying the C9orf72 expansion. polyglutamine 88-93 ataxin 2 Homo sapiens 273-278 25098532-9 2014 Furthermore, we propose that ATXN2 polyQ expansions could act as a strong modifier of the FTD phenotype in the presence of a C9orf72 repeat expansion, leading to the development of clinical signs featuring both FTD and ALS. polyglutamine 35-40 ataxin 2 Homo sapiens 29-34 25027299-2 2014 The molecular basis of SCA2 is the expansion of a polyglutamine tract in Ataxin-2, encoding a Lsm domain that may bind RNA and a PAM2 motif that enables interaction with the poly (A) binding protein. polyglutamine 50-63 ataxin 2 Homo sapiens 23-27 25027299-2 2014 The molecular basis of SCA2 is the expansion of a polyglutamine tract in Ataxin-2, encoding a Lsm domain that may bind RNA and a PAM2 motif that enables interaction with the poly (A) binding protein. polyglutamine 50-63 ataxin 2 Homo sapiens 73-81 25027299-11 2014 Proline-rich motifs that may mediate protein interactions are widespread in Ataxin-2 proteins, but expansion of polyglutamine tracts associated with spinocerebellar ataxia type 2, is present only in primates, as well as some insects. polyglutamine 112-125 ataxin 2 Homo sapiens 149-178 27597528-1 2016 Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk factors for motor neuron disease (ALS and FTLD) and perhaps also for Levodopa-responsive Parkinson"s disease (PD). polyglutamine 17-30 ataxin 2 Homo sapiens 0-8 27597528-1 2016 Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk factors for motor neuron disease (ALS and FTLD) and perhaps also for Levodopa-responsive Parkinson"s disease (PD). polyglutamine 17-30 ataxin 2 Homo sapiens 10-15 27597528-1 2016 Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk factors for motor neuron disease (ALS and FTLD) and perhaps also for Levodopa-responsive Parkinson"s disease (PD). polyglutamine 17-30 ataxin 2 Homo sapiens 156-185 27597528-1 2016 Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk factors for motor neuron disease (ALS and FTLD) and perhaps also for Levodopa-responsive Parkinson"s disease (PD). polyglutamine 17-30 ataxin 2 Homo sapiens 187-191 26086378-8 2015 Strong RAN translation was also observed when driving the ATXN2 sequence with the CMV promoter with ATXN2 sequence downstream of the CAG repeat truncated to 18 bp in the polyglutamine frame but not in the polyserine or polyalanine frames. polyglutamine 170-183 ataxin 2 Homo sapiens 58-63 25457026-0 2015 Intermediate-length polyglutamine in ATXN2 is a possible risk factor among Eastern Chinese patients with amyotrophic lateral sclerosis. polyglutamine 20-33 ataxin 2 Homo sapiens 37-42 25457026-2 2015 A number of previous studies demonstrated that intermediate-length polyglutamine repeats within the ataxin-2 gene (ATXN2) might be a risk factor among patients with ALS in Western countries. polyglutamine 67-80 ataxin 2 Homo sapiens 100-108 25457026-2 2015 A number of previous studies demonstrated that intermediate-length polyglutamine repeats within the ataxin-2 gene (ATXN2) might be a risk factor among patients with ALS in Western countries. polyglutamine 67-80 ataxin 2 Homo sapiens 115-120 25457026-8 2015 We found that ATXN2 intermediate-length polyglutamine expansions greater than 24 and 27 repeats were associated with sporadic ALS. polyglutamine 40-53 ataxin 2 Homo sapiens 14-19 24534762-4 2014 Intermediate-length polyQ expansions (>24 Qs) of ATXN2 were found in 7 ADPD patients and no controls (7/299 = 2.34% and 0/329 = 0%, respectively; p = 0.0053 < 0.05/8 after Bonferroni correction). polyglutamine 20-25 ataxin 2 Homo sapiens 49-54 24534762-7 2014 Our results may support the hypothesis that ATXN2 polyQ expansion is a specific predisposing factor for multiple neurodegenerative diseases. polyglutamine 50-55 ataxin 2 Homo sapiens 44-49 24269018-1 2014 Intermediate-length polyglutamine expansions in ataxin 2 are a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine 20-33 ataxin 2 Homo sapiens 48-56 23735416-2 2013 The expansion of trinucleotide CAG repeats in the coding region of the ATXN-2 gene leads to expanded polyglutamine stretch in the mutated protein which causes neuronal death. polyglutamine 101-114 ataxin 2 Homo sapiens 71-77 22996397-2 2013 SCA2, one of the most common ataxias worldwide, is caused by the expansion of a CAG triplet repeat located in the N-terminal coding region of the ATXN2 gene, which results in the incorporation of a segment of polyglutamines in the mutant protein, being longer expansions associated with earlier onset and more sever disease in subsequent generations. polyglutamine 209-223 ataxin 2 Homo sapiens 0-4 22996397-2 2013 SCA2, one of the most common ataxias worldwide, is caused by the expansion of a CAG triplet repeat located in the N-terminal coding region of the ATXN2 gene, which results in the incorporation of a segment of polyglutamines in the mutant protein, being longer expansions associated with earlier onset and more sever disease in subsequent generations. polyglutamine 209-223 ataxin 2 Homo sapiens 146-151 23889603-5 2014 Interestingly, intermediate-length polyQ expansions (27-33 Qs) in ataxin 2, the causative gene of spinocerebellar ataxia type 2, have recently been reported to be a genetic risk factor for SALS. polyglutamine 35-40 ataxin 2 Homo sapiens 66-74 23224816-1 2013 Spinocerebellar ataxia type 2 (SCA2) is caused by triple nucleotide repeat (CAG) expansion in the coding region of the ATAXN2 gene on chromosome 12, which produces an elongated, toxic polyglutamine tract, leading to Purkinje cell loss. polyglutamine 184-197 ataxin 2 Homo sapiens 0-29 23224816-1 2013 Spinocerebellar ataxia type 2 (SCA2) is caused by triple nucleotide repeat (CAG) expansion in the coding region of the ATAXN2 gene on chromosome 12, which produces an elongated, toxic polyglutamine tract, leading to Purkinje cell loss. polyglutamine 184-197 ataxin 2 Homo sapiens 31-35 23172909-10 2013 These findings describe new cellular mechanisms linking ALS with ataxin-2 intermediate length polyQ expansions and provide further evidence linking disruption to ER-Golgi compartments and FUS pathology in ALS. polyglutamine 94-99 ataxin 2 Homo sapiens 65-73 22868089-5 2012 Furthermore, ataxin-2 (encoded by the gene ATXN2), a polyglutamine containing protein elongated in spinocerebellar ataxia type 2, has been shown to be a modulator of TDP-43 induced toxicity in ALS animal and cell models. polyglutamine 53-66 ataxin 2 Homo sapiens 13-21 23197749-0 2012 Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis. polyglutamine 42-47 ataxin 2 Homo sapiens 13-21 23197749-1 2012 OBJECTIVE: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine 61-74 ataxin 2 Homo sapiens 101-109 23197749-1 2012 OBJECTIVE: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine 61-74 ataxin 2 Homo sapiens 111-117 23197749-1 2012 OBJECTIVE: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine 76-81 ataxin 2 Homo sapiens 101-109 23197749-1 2012 OBJECTIVE: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). polyglutamine 76-81 ataxin 2 Homo sapiens 111-117 23197749-2 2012 This work was undertaken with the aim to investigate the frequency of ataxin-1 (ATXN-1) and ATXN-2 PolyQ expansions in a cohort of patients with sporadic ALS (sALS) and patients with familial ALS (fALS) from southern Italy. polyglutamine 99-104 ataxin 2 Homo sapiens 92-98 23197749-4 2012 RESULTS: We found significantly higher intermediate PolyQ expansions >= 32 for ATXN-1 alleles and >= 28 for ATXN-2 alleles in the sALS cohort (ATXN-1: ALS, 7.07% vs controls, 2.38%; p = 0.0001; ATXN-2: ALS, 2.72% vs controls, 0.5%; p = 0.001). polyglutamine 52-57 ataxin 2 Homo sapiens 194-200 23197749-7 2012 CONCLUSIONS: Both ATXN-1 and ATXN-2 PolyQ intermediate expansions are independently associated with an increased risk for ALS. polyglutamine 36-41 ataxin 2 Homo sapiens 29-35 22868089-5 2012 Furthermore, ataxin-2 (encoded by the gene ATXN2), a polyglutamine containing protein elongated in spinocerebellar ataxia type 2, has been shown to be a modulator of TDP-43 induced toxicity in ALS animal and cell models. polyglutamine 53-66 ataxin 2 Homo sapiens 43-48 22868089-6 2012 Finally, it has been shown that ATXN2 with non-pathogenic intermediate-length CAG/CAA repeat elongations (encoding the polyglutamine tract) is a genetic risk factor of ALS. polyglutamine 119-132 ataxin 2 Homo sapiens 32-37 22764223-0 2012 ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications. polyglutamine 24-29 ataxin 2 Homo sapiens 15-23 22526021-5 2012 Intermediate-length polyglutamine (polyQ) expansions in ataxin 2 were recently identified as a genetic risk factor for ALS. polyglutamine 20-33 ataxin 2 Homo sapiens 56-64 22526021-5 2012 Intermediate-length polyglutamine (polyQ) expansions in ataxin 2 were recently identified as a genetic risk factor for ALS. polyglutamine 35-40 ataxin 2 Homo sapiens 56-64 22526021-7 2012 The motor neurons of ALS cases harboring ataxin 2 polyQ expansions (n = 6) contained primarily skein-like or filamentous TDP-43 pathology and only rarely, if ever, contained large round inclusions, whereas the ALS cases without ataxin 2 polyQ expansions (n = 13) contained abundant large round and skein-like TDP-43 pathology. polyglutamine 50-55 ataxin 2 Homo sapiens 41-49 22526021-7 2012 The motor neurons of ALS cases harboring ataxin 2 polyQ expansions (n = 6) contained primarily skein-like or filamentous TDP-43 pathology and only rarely, if ever, contained large round inclusions, whereas the ALS cases without ataxin 2 polyQ expansions (n = 13) contained abundant large round and skein-like TDP-43 pathology. polyglutamine 237-242 ataxin 2 Homo sapiens 41-49 22684686-6 2012 Recent findings show that the brain is commonly seriously affected in the polyglutamine SCAs (i.e. SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17) and that the patterns of brain damage in these diseases overlap considerably in patients suffering from advanced disease stages. polyglutamine 74-87 ataxin 2 Homo sapiens 105-109 22764223-3 2012 Ataxin 2 intermediate-length polyglutamine (polyQ) expansions were recently identified as a risk factor for ALS; however, the mechanism by which they contribute to disease is unknown. polyglutamine 29-42 ataxin 2 Homo sapiens 0-8 22764223-3 2012 Ataxin 2 intermediate-length polyglutamine (polyQ) expansions were recently identified as a risk factor for ALS; however, the mechanism by which they contribute to disease is unknown. polyglutamine 44-49 ataxin 2 Homo sapiens 0-8 22764223-4 2012 Here, we show that intermediate-length ataxin 2 polyQ expansions enhance stress-induced TDP-43 C-terminal cleavage and phosphorylation in human cells. polyglutamine 48-53 ataxin 2 Homo sapiens 39-47 22764223-5 2012 We also connect intermediate-length ataxin 2 polyQ expansions to the stress-dependent activation of multiple caspases, including caspase 3. polyglutamine 45-50 ataxin 2 Homo sapiens 36-44 22764223-9 2012 These results provide mechanistic insight into how ataxin 2 intermediate-length polyQ expansions could contribute to ALS--by enhancing stress-induced TDP-43 pathological modifications via caspase activation. polyglutamine 80-85 ataxin 2 Homo sapiens 51-59 22764223-10 2012 Because longer ataxin 2 polyQ expansions are associated with a different disease, spinocerebellar ataxia 2, these findings help explain how different polyQ expansions in the same protein can have distinct cellular consequences, ultimately resulting in different clinical features. polyglutamine 24-29 ataxin 2 Homo sapiens 15-23 22764223-10 2012 Because longer ataxin 2 polyQ expansions are associated with a different disease, spinocerebellar ataxia 2, these findings help explain how different polyQ expansions in the same protein can have distinct cellular consequences, ultimately resulting in different clinical features. polyglutamine 150-155 ataxin 2 Homo sapiens 15-23 22035589-0 2012 Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. polyglutamine 9-14 ataxin 2 Homo sapiens 0-8 22035589-2 2012 Recently, intermediate-length (27-33) polyglutamine (polyQ) expansions in ataxin-2 (ATXN2) have been associated with increased risk for ALS, while expansions of > 34 repeats are known to cause spinocerebellar ataxia type 2 (Sca-2). polyglutamine 38-51 ataxin 2 Homo sapiens 74-82 22035589-2 2012 Recently, intermediate-length (27-33) polyglutamine (polyQ) expansions in ataxin-2 (ATXN2) have been associated with increased risk for ALS, while expansions of > 34 repeats are known to cause spinocerebellar ataxia type 2 (Sca-2). polyglutamine 38-51 ataxin 2 Homo sapiens 84-89 22035589-2 2012 Recently, intermediate-length (27-33) polyglutamine (polyQ) expansions in ataxin-2 (ATXN2) have been associated with increased risk for ALS, while expansions of > 34 repeats are known to cause spinocerebellar ataxia type 2 (Sca-2). polyglutamine 53-58 ataxin 2 Homo sapiens 74-82 22035589-2 2012 Recently, intermediate-length (27-33) polyglutamine (polyQ) expansions in ataxin-2 (ATXN2) have been associated with increased risk for ALS, while expansions of > 34 repeats are known to cause spinocerebellar ataxia type 2 (Sca-2). polyglutamine 53-58 ataxin 2 Homo sapiens 84-89 22035589-2 2012 Recently, intermediate-length (27-33) polyglutamine (polyQ) expansions in ataxin-2 (ATXN2) have been associated with increased risk for ALS, while expansions of > 34 repeats are known to cause spinocerebellar ataxia type 2 (Sca-2). polyglutamine 53-58 ataxin 2 Homo sapiens 224-229 22035589-6 2012 Our results provide further support to the notion that ATXN2 associated polyglutamine amplification is specific to the ALS-end of the FTLD-ALS disease spectrum. polyglutamine 72-85 ataxin 2 Homo sapiens 55-60 22916186-1 2012 Expansions of the polyglutamine (polyQ) domain (>= 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). polyglutamine 18-31 ataxin 2 Homo sapiens 58-66 21889984-0 2012 The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. polyglutamine 78-91 ataxin 2 Homo sapiens 56-64 21889984-1 2012 Full expansions of the polyglutamine domain (polyQ>=34) within the polysome-associated protein ataxin-2 (ATXN2) are the cause of a multi-system neurodegenerative disorder, which usually presents as a Spino-Cerebellar Ataxia and is therefore known as SCA2, but may rarely manifest as Levodopa-responsive Parkinson syndrome or as motor neuron disease. polyglutamine 23-36 ataxin 2 Homo sapiens 95-103 21889984-1 2012 Full expansions of the polyglutamine domain (polyQ>=34) within the polysome-associated protein ataxin-2 (ATXN2) are the cause of a multi-system neurodegenerative disorder, which usually presents as a Spino-Cerebellar Ataxia and is therefore known as SCA2, but may rarely manifest as Levodopa-responsive Parkinson syndrome or as motor neuron disease. polyglutamine 23-36 ataxin 2 Homo sapiens 105-110 21889984-1 2012 Full expansions of the polyglutamine domain (polyQ>=34) within the polysome-associated protein ataxin-2 (ATXN2) are the cause of a multi-system neurodegenerative disorder, which usually presents as a Spino-Cerebellar Ataxia and is therefore known as SCA2, but may rarely manifest as Levodopa-responsive Parkinson syndrome or as motor neuron disease. polyglutamine 23-36 ataxin 2 Homo sapiens 250-254 21889984-4 2012 In 559 independent ALS patients from Central Europe, the association of ATXN2 expansions (30<=polyQ<=35) with ALS was highly significant. polyglutamine 94-99 ataxin 2 Homo sapiens 72-77 22956915-1 2012 Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)(31). polyglutamine 65-78 ataxin 2 Homo sapiens 0-29 22956915-1 2012 Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)(31). polyglutamine 65-78 ataxin 2 Homo sapiens 31-35 22956915-1 2012 Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)(31). polyglutamine 65-78 ataxin 2 Homo sapiens 116-121 22916186-1 2012 Expansions of the polyglutamine (polyQ) domain (>= 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). polyglutamine 18-31 ataxin 2 Homo sapiens 68-73 22916186-1 2012 Expansions of the polyglutamine (polyQ) domain (>= 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). polyglutamine 18-31 ataxin 2 Homo sapiens 100-129 22916186-1 2012 Expansions of the polyglutamine (polyQ) domain (>= 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). polyglutamine 18-31 ataxin 2 Homo sapiens 131-135 22916186-1 2012 Expansions of the polyglutamine (polyQ) domain (>= 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). polyglutamine 33-38 ataxin 2 Homo sapiens 58-66 22916186-1 2012 Expansions of the polyglutamine (polyQ) domain (>= 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). polyglutamine 33-38 ataxin 2 Homo sapiens 68-73 22916186-1 2012 Expansions of the polyglutamine (polyQ) domain (>= 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). polyglutamine 33-38 ataxin 2 Homo sapiens 100-129 22916186-1 2012 Expansions of the polyglutamine (polyQ) domain (>= 34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). polyglutamine 33-38 ataxin 2 Homo sapiens 131-135 22916186-5 2012 In accordance with other studies, our results confirmed that 31-32 polyQ repeats in the ATXN2 gene are associated with risk of developing ALS in 1.7% of the Turkish ALS cohort (p=0.0172). polyglutamine 67-72 ataxin 2 Homo sapiens 88-93 23196570-6 2012 Furthermore, the ALS susceptibility factor ataxin-2 is recently identified as a potent modifier of TDP-43 toxicity and growing evidence indicates that intermediate-length polyglutamine expansions in ataxin-2 are a genetic risk factor for ALS. polyglutamine 171-184 ataxin 2 Homo sapiens 43-51 23196570-6 2012 Furthermore, the ALS susceptibility factor ataxin-2 is recently identified as a potent modifier of TDP-43 toxicity and growing evidence indicates that intermediate-length polyglutamine expansions in ataxin-2 are a genetic risk factor for ALS. polyglutamine 171-184 ataxin 2 Homo sapiens 199-207 21292779-0 2011 Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. polyglutamine 29-42 ataxin 2 Homo sapiens 0-8 21660502-0 2011 Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS. polyglutamine 98-111 ataxin 2 Homo sapiens 69-77 21660502-5 2011 Yeast and fly studies revealed an interaction with the counterparts of human Ataxin-2, a gene whose polyglutamine repeat expansion is associated with spinocerebellar ataxia type 2. polyglutamine 100-113 ataxin 2 Homo sapiens 77-85 21660502-5 2011 Yeast and fly studies revealed an interaction with the counterparts of human Ataxin-2, a gene whose polyglutamine repeat expansion is associated with spinocerebellar ataxia type 2. polyglutamine 100-113 ataxin 2 Homo sapiens 150-179 21660502-7 2011 DNA analysis of patients revealed that intermediate-length polyglutamine expansions in ataxin-2 are a risk factor for ALS, such that repeat lengths are greater than normal, but lower than that associated with spinocerebellar ataxia type 2 (SCA2), and are more frequent in ALS patients than in matched controls. polyglutamine 59-72 ataxin 2 Homo sapiens 87-95 21660502-7 2011 DNA analysis of patients revealed that intermediate-length polyglutamine expansions in ataxin-2 are a risk factor for ALS, such that repeat lengths are greater than normal, but lower than that associated with spinocerebellar ataxia type 2 (SCA2), and are more frequent in ALS patients than in matched controls. polyglutamine 59-72 ataxin 2 Homo sapiens 209-238 21660502-7 2011 DNA analysis of patients revealed that intermediate-length polyglutamine expansions in ataxin-2 are a risk factor for ALS, such that repeat lengths are greater than normal, but lower than that associated with spinocerebellar ataxia type 2 (SCA2), and are more frequent in ALS patients than in matched controls. polyglutamine 59-72 ataxin 2 Homo sapiens 240-244 21741123-0 2011 Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. polyglutamine 29-42 ataxin 2 Homo sapiens 0-8 21741123-1 2011 Intermediate-length polyglutamine (polyQ) expansions in the ataxin-2 (ATXN2) gene have recently been identified as a risk factor for sporadic amyotrophic lateral sclerosis (SALS). polyglutamine 20-33 ataxin 2 Homo sapiens 60-68 21741123-1 2011 Intermediate-length polyglutamine (polyQ) expansions in the ataxin-2 (ATXN2) gene have recently been identified as a risk factor for sporadic amyotrophic lateral sclerosis (SALS). polyglutamine 20-33 ataxin 2 Homo sapiens 70-75 21741123-1 2011 Intermediate-length polyglutamine (polyQ) expansions in the ataxin-2 (ATXN2) gene have recently been identified as a risk factor for sporadic amyotrophic lateral sclerosis (SALS). polyglutamine 35-40 ataxin 2 Homo sapiens 60-68 21741123-1 2011 Intermediate-length polyglutamine (polyQ) expansions in the ataxin-2 (ATXN2) gene have recently been identified as a risk factor for sporadic amyotrophic lateral sclerosis (SALS). polyglutamine 35-40 ataxin 2 Homo sapiens 70-75 21741123-7 2011 ATXN2 polyQ with a repeat length greater than 27 was found to be weakly associated with amyotrophic lateral sclerosis in our study. polyglutamine 6-11 ataxin 2 Homo sapiens 0-5 21741123-9 2011 Our finding provides evidence that the ATXN2 polyQ expansion greater than 27 might be a risk factor for Chinese SALS patients. polyglutamine 45-50 ataxin 2 Homo sapiens 39-44 21562248-1 2011 OBJECTIVE: Given the recent finding of an association between intermediate-length polyglutamine (polyQ) expansions in ataxin 2 and amyotrophic lateral sclerosis (ALS), we sought to determine whether expansions in other polyQ disease genes were associated with ALS. polyglutamine 82-95 ataxin 2 Homo sapiens 118-126 21562248-1 2011 OBJECTIVE: Given the recent finding of an association between intermediate-length polyglutamine (polyQ) expansions in ataxin 2 and amyotrophic lateral sclerosis (ALS), we sought to determine whether expansions in other polyQ disease genes were associated with ALS. polyglutamine 97-102 ataxin 2 Homo sapiens 118-126 21562248-4 2011 CONCLUSIONS: These data indicate that the effects of ataxin 2 polyQ expansions on ALS risk are likely to be rooted in the biology of ataxin 2 or ataxin 2-specific interactions, rather than the presence of an expanded polyQ repeat per se. polyglutamine 62-67 ataxin 2 Homo sapiens 53-61 21399888-2 2011 SCA2 is caused by the abnormal expansion of cytosine-adenine-guanine triplet repeats in the encoding region of the ATXN2 gene and therefore the expression of toxic polyglutamine expansions in the ataxin 2 protein, which cause progressive neuronal death of Purkinje cells in the cerebellum and several pontine, mesencephalic, and thalamic neurons among other cells. polyglutamine 164-177 ataxin 2 Homo sapiens 0-4 21399888-2 2011 SCA2 is caused by the abnormal expansion of cytosine-adenine-guanine triplet repeats in the encoding region of the ATXN2 gene and therefore the expression of toxic polyglutamine expansions in the ataxin 2 protein, which cause progressive neuronal death of Purkinje cells in the cerebellum and several pontine, mesencephalic, and thalamic neurons among other cells. polyglutamine 164-177 ataxin 2 Homo sapiens 115-120 21399888-2 2011 SCA2 is caused by the abnormal expansion of cytosine-adenine-guanine triplet repeats in the encoding region of the ATXN2 gene and therefore the expression of toxic polyglutamine expansions in the ataxin 2 protein, which cause progressive neuronal death of Purkinje cells in the cerebellum and several pontine, mesencephalic, and thalamic neurons among other cells. polyglutamine 164-177 ataxin 2 Homo sapiens 196-204 21292779-2 2011 We recently identified intermediate-length polyglutamine (polyQ) expansions (27-33 Qs) in ataxin 2 as a genetic risk factor for sporadic ALS in North American ALS patients. polyglutamine 43-56 ataxin 2 Homo sapiens 90-98 21292779-2 2011 We recently identified intermediate-length polyglutamine (polyQ) expansions (27-33 Qs) in ataxin 2 as a genetic risk factor for sporadic ALS in North American ALS patients. polyglutamine 58-63 ataxin 2 Homo sapiens 90-98 21292779-3 2011 To extend these findings, we assessed the ataxin 2 polyQ repeat length in 1294 European ALS patients and 679 matched healthy controls. polyglutamine 51-56 ataxin 2 Homo sapiens 42-50 21292779-7 2011 Our findings support the hypothesis that ataxin 2 plays an important role in predisposing to ALS and that polyQ expansions in ataxin 2 are a significant risk factor for the disease. polyglutamine 106-111 ataxin 2 Homo sapiens 126-134 20740007-0 2010 Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. polyglutamine 29-42 ataxin 2 Homo sapiens 0-8 21479228-0 2011 PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. polyglutamine 0-5 ataxin 2 Homo sapiens 27-32 21479228-2 2011 Recently, intermediate length polyglutamine (polyQ) repeats of 27-33 in ATAXIN-2 (ATXN2), encoding the ATXN2 protein, were found to increase risk for ALS. polyglutamine 30-43 ataxin 2 Homo sapiens 72-80 21479228-2 2011 Recently, intermediate length polyglutamine (polyQ) repeats of 27-33 in ATAXIN-2 (ATXN2), encoding the ATXN2 protein, were found to increase risk for ALS. polyglutamine 30-43 ataxin 2 Homo sapiens 82-87 21479228-2 2011 Recently, intermediate length polyglutamine (polyQ) repeats of 27-33 in ATAXIN-2 (ATXN2), encoding the ATXN2 protein, were found to increase risk for ALS. polyglutamine 30-43 ataxin 2 Homo sapiens 103-108 21479228-2 2011 Recently, intermediate length polyglutamine (polyQ) repeats of 27-33 in ATAXIN-2 (ATXN2), encoding the ATXN2 protein, were found to increase risk for ALS. polyglutamine 45-50 ataxin 2 Homo sapiens 72-80 21479228-2 2011 Recently, intermediate length polyglutamine (polyQ) repeats of 27-33 in ATAXIN-2 (ATXN2), encoding the ATXN2 protein, were found to increase risk for ALS. polyglutamine 45-50 ataxin 2 Homo sapiens 82-87 21479228-2 2011 Recently, intermediate length polyglutamine (polyQ) repeats of 27-33 in ATAXIN-2 (ATXN2), encoding the ATXN2 protein, were found to increase risk for ALS. polyglutamine 45-50 ataxin 2 Homo sapiens 103-108 21479228-3 2011 In ATXN2, polyQ expansions of >= 34, which are pure CAG repeat expansions, cause spinocerebellar ataxia type 2. polyglutamine 10-15 ataxin 2 Homo sapiens 3-8 21479228-4 2011 However, similar length expansions that are interrupted with other codons, can present atypically with parkinsonism, suggesting that configuration of the repeat sequence plays an important role in disease manifestation in ATXN2 polyQ expansion diseases. polyglutamine 228-233 ataxin 2 Homo sapiens 222-227 21479228-9 2011 These results indicate that CAG repeat expansions in ATXN2 associated with ALS are uniformly interrupted repeats and that the nature of the repeat sequence and haplotype, as well as length of polyQ repeat, may play a role in the neurological effect conferred by expansions in ATXN2. polyglutamine 192-197 ataxin 2 Homo sapiens 53-58 21105231-0 2010 Motor neuron disease: polyQ expansions in ataxin-2:a risk factor for amyotrophic lateral sclerosis? polyglutamine 22-27 ataxin 2 Homo sapiens 42-50 20740007-5 2010 To assess the involvement of ATXN2 in ALS, we analysed the length of the polyQ repeat in the ATXN2 gene in 915 ALS patients. polyglutamine 73-78 ataxin 2 Homo sapiens 93-98 20740007-6 2010 We found that intermediate-length polyQ expansions (27-33 glutamines) in ATXN2 were significantly associated with ALS. polyglutamine 34-39 ataxin 2 Homo sapiens 73-78 20030245-3 2009 These "polyglutamine disorders" are, SCA1, SCA2, Machado-Joseph disease, SCA6, SCA7, SCA17 and DRPLA. polyglutamine 7-20 ataxin 2 Homo sapiens 43-47 26023252-5 2009 SCA2 is caused by a polyQ expansion in the amino-terminal region of a cytosolic protein ataxin-2 (Atxn2). polyglutamine 20-25 ataxin 2 Homo sapiens 0-4 26023252-5 2009 SCA2 is caused by a polyQ expansion in the amino-terminal region of a cytosolic protein ataxin-2 (Atxn2). polyglutamine 20-25 ataxin 2 Homo sapiens 88-96 26023252-5 2009 SCA2 is caused by a polyQ expansion in the amino-terminal region of a cytosolic protein ataxin-2 (Atxn2). polyglutamine 20-25 ataxin 2 Homo sapiens 98-103 19201647-3 2009 METHODS: In a specialized ataxia clinic, 54 presymptomatic carriers of SCA2 polyglutamine expansions and 56 relatives without mutation were documented with regard to their maximal saccade velocity (MSV). polyglutamine 76-89 ataxin 2 Homo sapiens 71-75 18418684-5 2008 The disease cause lies in the polyglutamine domain of the protein ataxin-2, which can expand in families over successive generations resulting in earlier onset age and faster progression. polyglutamine 30-43 ataxin 2 Homo sapiens 66-74 18499737-1 2008 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease that results from the expansion of an unstable trinucleotide CAG repeat encoding for a polyglutamine tract. polyglutamine 175-188 ataxin 2 Homo sapiens 0-29 18499737-1 2008 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease that results from the expansion of an unstable trinucleotide CAG repeat encoding for a polyglutamine tract. polyglutamine 175-188 ataxin 2 Homo sapiens 31-35 19043961-1 2008 BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet located within the coding sequence of the ataxin-2 gene, which ultimately provokes the incorporation of a stretch of polyglutamines in the mutant protein. polyglutamine 210-224 ataxin 2 Homo sapiens 12-41 19043961-1 2008 BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet located within the coding sequence of the ataxin-2 gene, which ultimately provokes the incorporation of a stretch of polyglutamines in the mutant protein. polyglutamine 210-224 ataxin 2 Homo sapiens 43-47 19043961-1 2008 BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet located within the coding sequence of the ataxin-2 gene, which ultimately provokes the incorporation of a stretch of polyglutamines in the mutant protein. polyglutamine 210-224 ataxin 2 Homo sapiens 135-143 18236424-1 2008 BACKGROUND: Spinocerebellar ataxia 2 (SCA2) is an autosomal-dominant neurodegenerative disease caused by an extended polyglutamine sequence in the ATXN2 protein. polyglutamine 117-130 ataxin 2 Homo sapiens 12-36 18236424-1 2008 BACKGROUND: Spinocerebellar ataxia 2 (SCA2) is an autosomal-dominant neurodegenerative disease caused by an extended polyglutamine sequence in the ATXN2 protein. polyglutamine 117-130 ataxin 2 Homo sapiens 38-42 18236424-1 2008 BACKGROUND: Spinocerebellar ataxia 2 (SCA2) is an autosomal-dominant neurodegenerative disease caused by an extended polyglutamine sequence in the ATXN2 protein. polyglutamine 117-130 ataxin 2 Homo sapiens 147-152 17392519-2 2007 The neurodegenerative disorder spinocerebellar ataxia type 2 is caused by a trinucleotide expansion in the SCA2 gene encoding a lengthened polyglutamine stretch in the gene product ataxin-2, which seems to be implicated in cellular RNA-processing pathways and translational regulation. polyglutamine 139-152 ataxin 2 Homo sapiens 107-111 17392519-2 2007 The neurodegenerative disorder spinocerebellar ataxia type 2 is caused by a trinucleotide expansion in the SCA2 gene encoding a lengthened polyglutamine stretch in the gene product ataxin-2, which seems to be implicated in cellular RNA-processing pathways and translational regulation. polyglutamine 139-152 ataxin 2 Homo sapiens 181-189 17097639-1 2007 Expansion of the polyQ repeat in ataxin-2 results in degeneration of Purkinje neurons and other neuronal groups including the substantia nigra in patients with spinocerebellar ataxia type 2 (SCA2). polyglutamine 17-22 ataxin 2 Homo sapiens 33-41 17097639-1 2007 Expansion of the polyQ repeat in ataxin-2 results in degeneration of Purkinje neurons and other neuronal groups including the substantia nigra in patients with spinocerebellar ataxia type 2 (SCA2). polyglutamine 17-22 ataxin 2 Homo sapiens 160-189 17097639-1 2007 Expansion of the polyQ repeat in ataxin-2 results in degeneration of Purkinje neurons and other neuronal groups including the substantia nigra in patients with spinocerebellar ataxia type 2 (SCA2). polyglutamine 17-22 ataxin 2 Homo sapiens 191-195 16128876-1 2005 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder characterized as an expanded CAG trinucleotide repeats in SCA2 gene resulting in abnormal polyglutamine sequence. polyglutamine 179-192 ataxin 2 Homo sapiens 0-29 16115810-1 2005 Spinocerebellar ataxia type 2 is an inherited neurodegenerative disorder that is caused by an expanded trinucleotide repeat in the SCA2 gene, encoding a polyglutamine stretch in the gene product ataxin-2. polyglutamine 153-166 ataxin 2 Homo sapiens 195-203 16128876-1 2005 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder characterized as an expanded CAG trinucleotide repeats in SCA2 gene resulting in abnormal polyglutamine sequence. polyglutamine 179-192 ataxin 2 Homo sapiens 31-35 16128876-1 2005 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder characterized as an expanded CAG trinucleotide repeats in SCA2 gene resulting in abnormal polyglutamine sequence. polyglutamine 179-192 ataxin 2 Homo sapiens 147-151 15663938-1 2005 Spinocerebellar ataxia type 2 (SCA2) is a hereditary neurodegenerative disorder caused by a trinucleotide expansion in the SCA2 gene, encoding a polyglutamine stretch in the gene product ataxin-2 (ATX2), whose cellular function is unknown. polyglutamine 145-158 ataxin 2 Homo sapiens 0-29 16023918-1 2005 Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of a polyglutamine tract in ataxin-2, the SCA2 gene product. polyglutamine 69-82 ataxin 2 Homo sapiens 0-29 16023918-1 2005 Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of a polyglutamine tract in ataxin-2, the SCA2 gene product. polyglutamine 69-82 ataxin 2 Homo sapiens 31-35 16023918-1 2005 Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of a polyglutamine tract in ataxin-2, the SCA2 gene product. polyglutamine 69-82 ataxin 2 Homo sapiens 92-100 16023918-1 2005 Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of a polyglutamine tract in ataxin-2, the SCA2 gene product. polyglutamine 69-82 ataxin 2 Homo sapiens 106-110 15747371-5 2005 The relation between onset age and CAG repeat was similar for SCA1, 3, 6, and 7, but different for SCA2, pointing to different polyglutamine effects in SCA2. polyglutamine 127-140 ataxin 2 Homo sapiens 152-156 15827014-2 2005 MSV is strongly decreased in SCA2 patients and is influenced mostly by polyglutamine size. polyglutamine 71-84 ataxin 2 Homo sapiens 29-33 17132942-2 2005 The majority of these diseases result from expanded polyglutamine tracts in the encoded protein as seen in SCA1, SCA2, SCA3, SCA6, SCA7 and Dentatorubral-Pallidoluysian Atrophy (DRPLA). polyglutamine 52-65 ataxin 2 Homo sapiens 113-117 15663938-1 2005 Spinocerebellar ataxia type 2 (SCA2) is a hereditary neurodegenerative disorder caused by a trinucleotide expansion in the SCA2 gene, encoding a polyglutamine stretch in the gene product ataxin-2 (ATX2), whose cellular function is unknown. polyglutamine 145-158 ataxin 2 Homo sapiens 31-35 15663938-1 2005 Spinocerebellar ataxia type 2 (SCA2) is a hereditary neurodegenerative disorder caused by a trinucleotide expansion in the SCA2 gene, encoding a polyglutamine stretch in the gene product ataxin-2 (ATX2), whose cellular function is unknown. polyglutamine 145-158 ataxin 2 Homo sapiens 123-127 15663938-1 2005 Spinocerebellar ataxia type 2 (SCA2) is a hereditary neurodegenerative disorder caused by a trinucleotide expansion in the SCA2 gene, encoding a polyglutamine stretch in the gene product ataxin-2 (ATX2), whose cellular function is unknown. polyglutamine 145-158 ataxin 2 Homo sapiens 187-195 15663938-1 2005 Spinocerebellar ataxia type 2 (SCA2) is a hereditary neurodegenerative disorder caused by a trinucleotide expansion in the SCA2 gene, encoding a polyglutamine stretch in the gene product ataxin-2 (ATX2), whose cellular function is unknown. polyglutamine 145-158 ataxin 2 Homo sapiens 197-201 10712199-2 2000 The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPLA; a glycine-to-arginine substitution was found in SCA6 as well. polyglutamine 43-56 ataxin 2 Homo sapiens 72-76 12490063-0 2002 Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats. polyglutamine 35-48 ataxin 2 Homo sapiens 26-34 12490063-1 2002 Spinocerebellar ataxia, type 2 (SCA2), results from an expansion of a stretch of polyglutamine repeats within the coding sequence of the ataxin-2 gene (ATX2), localized to chromosome 12q23-24. polyglutamine 81-94 ataxin 2 Homo sapiens 0-30 12490063-1 2002 Spinocerebellar ataxia, type 2 (SCA2), results from an expansion of a stretch of polyglutamine repeats within the coding sequence of the ataxin-2 gene (ATX2), localized to chromosome 12q23-24. polyglutamine 81-94 ataxin 2 Homo sapiens 32-36 12490063-1 2002 Spinocerebellar ataxia, type 2 (SCA2), results from an expansion of a stretch of polyglutamine repeats within the coding sequence of the ataxin-2 gene (ATX2), localized to chromosome 12q23-24. polyglutamine 81-94 ataxin 2 Homo sapiens 137-145 12490063-1 2002 Spinocerebellar ataxia, type 2 (SCA2), results from an expansion of a stretch of polyglutamine repeats within the coding sequence of the ataxin-2 gene (ATX2), localized to chromosome 12q23-24. polyglutamine 81-94 ataxin 2 Homo sapiens 152-156 11471052-1 2001 Human ataxin-2 contains a polyglutamine repeat that is expanded in patients with spinocerebellar ataxia type 2 (SCA2). polyglutamine 26-39 ataxin 2 Homo sapiens 6-14 11471052-1 2001 Human ataxin-2 contains a polyglutamine repeat that is expanded in patients with spinocerebellar ataxia type 2 (SCA2). polyglutamine 26-39 ataxin 2 Homo sapiens 81-110 11471052-1 2001 Human ataxin-2 contains a polyglutamine repeat that is expanded in patients with spinocerebellar ataxia type 2 (SCA2). polyglutamine 26-39 ataxin 2 Homo sapiens 112-116 10970064-5 2000 The mutations that cause SCA1, SCA2, SCA3, SCA6 and SCA7 share the common feature of an expanded CAG sequence, encoding an abnormally long polyglutamine tract within the respective gene products. polyglutamine 139-152 ataxin 2 Homo sapiens 31-35 10915763-4 2000 The ability of polyglutamine tracts to interact with each other, as well as the presence of intra-nuclear inclusions in other polyglutamine disorders, led us to hypothesize that other CAG-containing proteins may interact with expanded ataxin-2 and affect the rate of protein accumulation, and thus influence age at onset. polyglutamine 15-28 ataxin 2 Homo sapiens 235-243 15895563-2 2005 The translated proteins contain abnormally long polyglutamine stretches, and SCA-1, SCA-2, SCA-3/Machado-Joseph disease (MJD), SCA-6, SCA-7, and SCA-17 are "polyglutamine diseases". polyglutamine 157-170 ataxin 2 Homo sapiens 84-89 11719247-5 2001 Recently, the transglutaminase activity has been hypothesized to be involved in the pathogenetic mechanisms responsible for the formation of cellular inclusions present in Huntington disease and in all the other polyglutamine (polyQ) diseases hitherto identified, such as spinobulbar muscular atrophy or Kennedy disease, spinocerebellar ataxias (SCA-1, SCA-2, SCA-3 or Machado-Joseph disease, SCA-6 and SCA-7) and dentatorubropallidoluysian atrophy. polyglutamine 227-232 ataxin 2 Homo sapiens 353-358 11563629-4 2001 Triple-labeling immunofluorescence demonstrated colocalization of ataxin-2 and ataxin-3 in NIIs containing expanded polyglutamine, irrespective of the disease examined. polyglutamine 116-129 ataxin 2 Homo sapiens 66-74 11305872-5 2001 Ataxin-2 also accumulated in the nucleus, but was not necessarily incorporated into NIs, suggesting that transport of these cytoplasmic proteins into the nucleus and their recruitment into NIs are not wholly explained by an interaction with a polyglutamine stretch and must be regulated in part by other mechanisms. polyglutamine 243-256 ataxin 2 Homo sapiens 0-8 10928570-4 2000 The first type of mutation present in SCA1, SCA2, SCA3, and SCA7 is an expanded CAG repeat in genes of unknown function that are translated into proteins with expanded polyglutamine tracts. polyglutamine 168-181 ataxin 2 Homo sapiens 44-48 10222770-4 1999 SCA2 is associated with an expanded CAG repeat that encodes polyglutamine of a gene and a larger number of the repeat is associated with earlier onset and more severe symptoms and more severe neuronal degenerations. polyglutamine 60-73 ataxin 2 Homo sapiens 0-4 10478584-2 1999 Spinocerebellar Ataxia Type 2 (SCA2) is one of the ADCAs and also belongs to a special group caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. polyglutamine 154-167 ataxin 2 Homo sapiens 0-29 10478584-2 1999 Spinocerebellar Ataxia Type 2 (SCA2) is one of the ADCAs and also belongs to a special group caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. polyglutamine 154-167 ataxin 2 Homo sapiens 31-35 10505630-1 1999 Spinocerebellar ataxia type 2 (SCA2) is associated with an expansion of CAG/polyglutamine-repeat of a gene of unknown function. polyglutamine 76-89 ataxin 2 Homo sapiens 0-29 10505630-1 1999 Spinocerebellar ataxia type 2 (SCA2) is associated with an expansion of CAG/polyglutamine-repeat of a gene of unknown function. polyglutamine 76-89 ataxin 2 Homo sapiens 31-35 10505630-4 1999 Triple-labeling immunofluorescence revealed that ataxin-2, expanded polyglutamine and ubiquitin were colocalized to these neuronal intranuclear inclusions (NIs), indicating that SCA2 shares morphological characteristics common to other neurological disorders associated with an expansion of CAG/polyglutamine-repeat. polyglutamine 68-81 ataxin 2 Homo sapiens 178-182 10505630-4 1999 Triple-labeling immunofluorescence revealed that ataxin-2, expanded polyglutamine and ubiquitin were colocalized to these neuronal intranuclear inclusions (NIs), indicating that SCA2 shares morphological characteristics common to other neurological disorders associated with an expansion of CAG/polyglutamine-repeat. polyglutamine 295-308 ataxin 2 Homo sapiens 178-182 10210910-12 1999 Our data suggest that in SCA2 an unknown sex-linked factor may play a role in the modulation of toxic effects of the polyglutamine tract. polyglutamine 117-130 ataxin 2 Homo sapiens 25-29 10353790-1 1999 Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. polyglutamine 101-114 ataxin 2 Homo sapiens 0-29 10353790-1 1999 Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. polyglutamine 101-114 ataxin 2 Homo sapiens 31-35 7477379-5 1995 The intensity of signal depends on the length of the polyglutamine expansion, and the antibody also detects specific pathological proteins expected to contain such expansion, in SCA2 and in autosomal dominant cerebellar ataxia with retinal degeneration, whose genes have not yet been identified. polyglutamine 53-66 ataxin 2 Homo sapiens 178-182 9158145-1 1997 Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. polyglutamine 96-109 ataxin 2 Homo sapiens 0-24 9158145-1 1997 Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. polyglutamine 96-109 ataxin 2 Homo sapiens 26-30 9112595-4 1997 This hypothesis was confirmed by the detection of the SCA2-specific pathological protein using the 1C2 monoclonal antibody which selectively recognizes large polyglutamine expansions and the characterization of a CAG expansion in the patients. polyglutamine 158-171 ataxin 2 Homo sapiens 54-58 8896556-5 1996 The SCA2 cDNA is predicted to code for 1,313 amino acids-with the CAG repeats coding for a polyglutamine tract. polyglutamine 91-104 ataxin 2 Homo sapiens 4-8