PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 19469833-1 2009 BACKGROUND AND PURPOSE: Dentatorubral-pallidoluysian atrophy (DRPLA) is a hereditary spinocerebellar degeneration caused by expansion of a trinucleotide CAG repeat encoding a polyglutamine tract in a disease protein atrophin-1. trinucleotide 139-152 atrophin 1 Homo sapiens 62-67 19469833-1 2009 BACKGROUND AND PURPOSE: Dentatorubral-pallidoluysian atrophy (DRPLA) is a hereditary spinocerebellar degeneration caused by expansion of a trinucleotide CAG repeat encoding a polyglutamine tract in a disease protein atrophin-1. trinucleotide 139-152 atrophin 1 Homo sapiens 216-226 11781699-0 2001 Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations. trinucleotide 16-29 atrophin 1 Homo sapiens 50-55 12464607-2 2003 It is caused by an expansion of a CAG trinucleotide repeat encoding polyglutamine in the atrophin-1 gene. trinucleotide 38-51 atrophin 1 Homo sapiens 89-99 12371928-8 2002 DNA analysis disclosed expanded trinucleotide repeats (n = 54) in the DRPLA gene. trinucleotide 32-45 atrophin 1 Homo sapiens 70-75 12956864-6 2003 DNA analysis revealed expanded trinucleotide repeats within the DRPLA gene. trinucleotide 31-44 atrophin 1 Homo sapiens 64-69 10337944-1 1999 Dentatorubral-pallidoluysian atrophy (DRPLA) is associated with an unstable CAG trinucleotide sequence. trinucleotide 80-93 atrophin 1 Homo sapiens 38-43 10809084-1 2000 Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder with expansion of trinucleotide CAG repeats in the coding region of the gene. trinucleotide 119-132 atrophin 1 Homo sapiens 42-47 10746559-1 2000 Expansion of CTG/CAG trinucleotide repeats has been shown to cause a number of autosomal dominant cerebellar ataxias (ADCA) such as SCA1, SCA2, SCA3/ MJD, SCA6, SCA7, SCA8 and DRPLA. trinucleotide 21-34 atrophin 1 Homo sapiens 176-181 10514531-1 1999 OBJECTIVE: To assess the frequency of the SCA1, SCA2,SCA3/MJD, SCA6, SCA7 and DRPLA CAG trinucleotide repeat expansions(CAG)n among individuals diagnosed with hereditary spinocerebellar ataxia(SCA) from Chinese families. trinucleotide 88-101 atrophin 1 Homo sapiens 78-83 10084125-2 1999 DRPLA is a dominantly inherited neurodegenerative disorder associated with the expansion of an unstable trinucleotide (CAG) repeat. trinucleotide 104-117 atrophin 1 Homo sapiens 0-5 11342385-2 2000 Here we report the results of the analysis of five trinucleotide repeats containing genes (SCA1, MJD/SCA3, DRPLA, FRDA and MD) in HD patients and in a group of healthy controls. trinucleotide 51-64 atrophin 1 Homo sapiens 107-112 9844416-1 1998 Dentatorubral-pallidoluysian atrophy (DRPLA) is a neurodegenerative disease showing autosomal dominant inheritance, which is associated with a specific trinucleotide repeat expansion in the DRPLA gene. trinucleotide 152-165 atrophin 1 Homo sapiens 38-43 10209453-0 1999 Corneal endothelial changes and trinucleotide repeat expansion of DRPLA gene. trinucleotide 32-45 atrophin 1 Homo sapiens 66-71 9844416-1 1998 Dentatorubral-pallidoluysian atrophy (DRPLA) is a neurodegenerative disease showing autosomal dominant inheritance, which is associated with a specific trinucleotide repeat expansion in the DRPLA gene. trinucleotide 152-165 atrophin 1 Homo sapiens 190-195 9050922-1 1997 Dentatorubral pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder caused by expansion of an unstable, tandemly repeated trinucleotide sequence, (CAG)n, in a novel gene on human chromosome 12p12-pter. trinucleotide 151-164 atrophin 1 Homo sapiens 38-43 9482263-1 1998 The CAG trinucleotide repeats in mRNAs for the responsible genes of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and X-linked spinal and bulbal muscular atrophy (SBMA) were examined in various neural and nonneural tissues of affected individuals. trinucleotide 8-21 atrophin 1 Homo sapiens 136-141 9143016-1 1997 The genetic defect dentatorubral-pallidoluysian atrophy (DRPLA) is caused by expansion of a CAG trinucleotide repeat. trinucleotide 96-109 atrophin 1 Homo sapiens 57-62 8891279-1 1996 The genetic defect dentatorubral-pallidoluysian atrophy (DRPLA) is known to be an expansion of a CAG trinucleotide repeat. trinucleotide 101-114 atrophin 1 Homo sapiens 57-62 9058092-1 1997 Expansion of trinucleotide repeats has been identified as a common mechanism of hereditary neurodegenerative diseases including spinal and bulbar muscular atrophy (SBMA), Huntington"s disease, dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), fragile X syndrome, myotonic dystrophy and Friedreich"s ataxia. trinucleotide 13-26 atrophin 1 Homo sapiens 231-236 8644735-1 1996 Autosomal dominant dentatorubral-pallidoluysian atrophy (DRPLA) and Machado-Joseph disease (MJD) are neurodegenerative disorders caused by CAG trinucleotide repeat expansions. trinucleotide 143-156 atrophin 1 Homo sapiens 57-62 8757047-1 1996 The genetic defect responsible for dentatorubral-pallidoluysian atrophy (DRPLA) is an expansion of a CAG trinucleotide repeat. trinucleotide 105-118 atrophin 1 Homo sapiens 73-78 8644735-2 1996 An inverse correlation of age at onset with the length of the expanded CAG trinucleotide repeats has been demonstrated, and the intergenerational instability of the length of the CAG trinucleotide repeats, which is more prominent in paternal than in maternal transmissions, has been shown to underlie the basic mechanisms of anticipation in DRPLA and MJD. trinucleotide 183-196 atrophin 1 Homo sapiens 341-346 7620120-2 1995 We have identified a specific unstable trinucleotide repeat expansion in a gene on the short arm of chromosome 12 as the pathogenic mutation for DRPLA. trinucleotide 39-52 atrophin 1 Homo sapiens 145-150 8925256-0 1996 Analysis of DRPLA trinucleotide repeats in schizophrenia. trinucleotide 18-31 atrophin 1 Homo sapiens 12-17 8965642-1 1996 Dentatorubral pallidoluysian atrophy (DRPLA, Smith"s disease) is one of five disorders currently known to result from expansion of a CAG trinucleotide repeat encoding glutamine. trinucleotide 137-150 atrophin 1 Homo sapiens 38-43 8745629-6 1995 The genetic basis of the inherited form of DRPLA is an expansion to more than 49 repeats of an unstable trinucleotide (CAG) in the DRPLA gene on the short arm of chromosome 12. trinucleotide 104-117 atrophin 1 Homo sapiens 43-48 8745629-6 1995 The genetic basis of the inherited form of DRPLA is an expansion to more than 49 repeats of an unstable trinucleotide (CAG) in the DRPLA gene on the short arm of chromosome 12. trinucleotide 104-117 atrophin 1 Homo sapiens 131-136 9173996-1 1995 Dentatorubral pallidoluysian atrophy (DRPLA) is a rare, progressive, fatal neuropsychiatric disorder similar to Huntington"s disease, caused by an expansion of a CAG trinucleotide repeat encoding glutamine. trinucleotide 166-179 atrophin 1 Homo sapiens 38-43 8926495-1 1996 We investigated the somatic mosaicism of trinucleotide repeat expansion in the neural and nonneural tissues of a dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), and spinal and bulbar muscular atrophy (SBMA) patient and their correlation to the topographical distribution of the pathological involvement. trinucleotide 41-54 atrophin 1 Homo sapiens 151-156 7885531-2 1994 An expanded CAG trinucleotide repeat sequence motif in a gene on the short arm of chromosome 12 has recently been identified in patients with DRPLA. trinucleotide 16-29 atrophin 1 Homo sapiens 142-147 7824105-4 1995 The molecular abnormality underlying DRPLA is an expanded, unstable CAG trinucleotide repeat on chromosome 12p. trinucleotide 72-85 atrophin 1 Homo sapiens 37-42 7998766-2 1994 At least seven disorders result from trinucleotide repeat expansion: X-linked spinal and bulbar muscular atrophy (SBMA), two fragile X syndromes of mental retardation (FRAXA and FRAXE), myotonic dystrophy, Huntington"s disease, spinocerebellar ataxia type 1 (SCA1), and dentatorubral-pallidoluysian atrophy (DRPLA). trinucleotide 37-50 atrophin 1 Homo sapiens 308-313 7885531-5 1994 We observed high-intensity signals in the globus pallidus on proton and T2-weighted magnetic resonance imaging (MRI) in a patient clinically diagnosed as juvenile-type DRPLA who had the expanded CAG trinucleotide repeat motif in the DRPLA gene. trinucleotide 199-212 atrophin 1 Homo sapiens 168-173 7885531-5 1994 We observed high-intensity signals in the globus pallidus on proton and T2-weighted magnetic resonance imaging (MRI) in a patient clinically diagnosed as juvenile-type DRPLA who had the expanded CAG trinucleotide repeat motif in the DRPLA gene. trinucleotide 199-212 atrophin 1 Homo sapiens 233-238 7951323-3 1994 Recently, DRPLA has been shown to be due to an expanded trinucleotide repeat located on chromosome 12pter-p12. trinucleotide 56-69 atrophin 1 Homo sapiens 10-15 34700111-1 2021 BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. trinucleotide 149-162 atrophin 1 Homo sapiens 50-55 8136826-2 1994 We investigated a candidate gene and found that DRPLA patients had an expanded CAG trinucleotide repeat in a gene on the short arm of chromosome 12. trinucleotide 83-96 atrophin 1 Homo sapiens 48-53 8136826-7 1994 We conclude that DRPLA is the seventh genetic disorder known to be associated with expansion of an unstable trinucleotide repeat. trinucleotide 108-121 atrophin 1 Homo sapiens 17-22 34700111-1 2021 BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. trinucleotide 149-162 atrophin 1 Homo sapiens 178-182 28856097-2 2017 The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the ATN1 gene. trinucleotide 55-68 atrophin 1 Homo sapiens 4-9 28856097-2 2017 The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the ATN1 gene. trinucleotide 55-68 atrophin 1 Homo sapiens 83-87 24981774-2 2014 DRPLA is caused by an expansion of a CAG trinucleotide repeat region within the protein-encoding sequence of the atrophin-1 (ATN-1) gene. trinucleotide 41-54 atrophin 1 Homo sapiens 0-5 20301664-5 1993 DIAGNOSIS/TESTING: The diagnosis of DRPLA is established in a proband with suggestive clinical findings and a family history of DRPLA or by the identification of a heterozygous pathogenic CAG trinucleotide expansion in ATN1 by molecular genetic testing. trinucleotide 192-205 atrophin 1 Homo sapiens 36-41 20301664-5 1993 DIAGNOSIS/TESTING: The diagnosis of DRPLA is established in a proband with suggestive clinical findings and a family history of DRPLA or by the identification of a heterozygous pathogenic CAG trinucleotide expansion in ATN1 by molecular genetic testing. trinucleotide 192-205 atrophin 1 Homo sapiens 219-223 25842919-1 2015 AIMS: Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disorder characterized by a trinucleotide repeat expansion. trinucleotide 113-126 atrophin 1 Homo sapiens 44-49 24981774-2 2014 DRPLA is caused by an expansion of a CAG trinucleotide repeat region within the protein-encoding sequence of the atrophin-1 (ATN-1) gene. trinucleotide 41-54 atrophin 1 Homo sapiens 113-123 24981774-2 2014 DRPLA is caused by an expansion of a CAG trinucleotide repeat region within the protein-encoding sequence of the atrophin-1 (ATN-1) gene. trinucleotide 41-54 atrophin 1 Homo sapiens 125-130 24981774-9 2014 Five compounds that showed >8-fold allele selectivity for mutant ATN-1 were also selective for inhibiting the expression of two other trinucleotide repeat disease genes, ataxin-3 (ATXN-3) and huntingtin (HTT). trinucleotide 137-150 atrophin 1 Homo sapiens 68-73 24981774-10 2014 These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes. trinucleotide 41-54 atrophin 1 Homo sapiens 69-74 24981774-10 2014 These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes. trinucleotide 41-54 atrophin 1 Homo sapiens 167-172