PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 24522175-0 2014 Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation. Iron 79-83 phospholipase A2 group VI Homo sapiens 23-29 24361204-3 2014 Among these, ATP13A2 and PLA2G6 are inconsistently associated with brain iron deposition. Iron 73-77 phospholipase A2 group VI Homo sapiens 25-31 24130795-9 2013 Molecular testing for PLA2G6 mutations is, therefore, indicated in childhood-onset ataxia syndromes, if neuroimaging shows cerebellar atrophy with or without evidence of iron accumulation. Iron 170-174 phospholipase A2 group VI Homo sapiens 22-28 23791636-0 2013 Specific roles for Group V secretory PLA2 in retinal iron-induced oxidative stress. Iron 53-57 phospholipase A2 group VI Homo sapiens 37-41 22732705-6 2012 A differential release of arachidonic acid (AA) and palmitic acid (PAL) catalyzed by cPLA(2) and iPLA(2) activities, respectively, was also observed in microsomal and cytosolic fractions obtained from retinas incubated with iron. Iron 224-228 phospholipase A2 group VI Homo sapiens 97-104 23182313-1 2013 BACKGROUND: Mutations in the phospholipase A2 Group 6 (PLA2G6) gene have been identified in autosomal recessive neurodegenerative diseases classified as infantile neuroaxonal dystrophy and neurodegeneration with brain iron accumulation. Iron 218-222 phospholipase A2 group VI Homo sapiens 29-53 23182313-1 2013 BACKGROUND: Mutations in the phospholipase A2 Group 6 (PLA2G6) gene have been identified in autosomal recessive neurodegenerative diseases classified as infantile neuroaxonal dystrophy and neurodegeneration with brain iron accumulation. Iron 218-222 phospholipase A2 group VI Homo sapiens 55-61 23791636-13 2013 The use of PLA2 inhibitors demonstrated that PS is actively deacylated during iron-induced oxidative stress. Iron 78-82 phospholipase A2 group VI Homo sapiens 11-15 22934738-18 2013 We suggest that PLA2G6 should be screened in any patient exhibiting progressive gait disturbance, bradykinesia, dysarthria, tremors, mood/behavior changes or cognitive decline, especially when associated with cerebellar atrophy and/or iron accumulation and/or cerebral atrophy. Iron 235-239 phospholipase A2 group VI Homo sapiens 16-22 24209433-0 2013 Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes. Iron 153-157 phospholipase A2 group VI Homo sapiens 60-66 20686114-2 2010 Mutations in the PLA2G6 gene encoding this enzyme occur in patients with idiopathic neurodegeneration plus brain iron accumulation and dystonia-parkinsonism without iron accumulation, whereas mice lacking PLA2G6 show neurological dysfunction and neuropathology after 13 months. Iron 113-117 phospholipase A2 group VI Homo sapiens 17-23 22515743-0 2012 PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation. Iron 71-75 phospholipase A2 group VI Homo sapiens 0-6 20619503-1 2012 The 2 major types of neurodegeneration with brain iron accumulation (NBIA) are the pantothenate kinase type 2 (PANK2)-associated neurodegeneration (PKAN) and NBIA2 or infantile neuroaxonal dystrophy (INAD) due to mutations in the phospholipase A2, group VI (PLA2G6) gene. Iron 50-54 phospholipase A2 group VI Homo sapiens 230-256 20619503-1 2012 The 2 major types of neurodegeneration with brain iron accumulation (NBIA) are the pantothenate kinase type 2 (PANK2)-associated neurodegeneration (PKAN) and NBIA2 or infantile neuroaxonal dystrophy (INAD) due to mutations in the phospholipase A2, group VI (PLA2G6) gene. Iron 50-54 phospholipase A2 group VI Homo sapiens 258-264 19855947-8 2010 Recent studies also reveal an important role of cPLA2 in modulating neuronal excitatory functions, sPLA2 in the inflammatory responses, and iPLA2 with childhood neurologic disorders associated with brain iron accumulation. Iron 204-208 phospholipase A2 group VI Homo sapiens 140-145 20938027-11 2010 CONCLUSIONS: Although the clinical presentation of PLA2G6-associated neurodegeneration was reported to be homogeneous, our findings suggest patients with PLA2G6 mutation could show heterogeneous phenotype such as dystonia-parkinsonism, dementia, frontotemporal atrophy/hypoperfusion, with or without brain iron accumulation. Iron 306-310 phospholipase A2 group VI Homo sapiens 154-160 20886109-1 2010 BACKGROUND: Mutations in the PLA2G6 gene have been identified in autosomal recessive neurodegenerative diseases classified as infantile neuroaxonal dystrophy (INAD), neurodegeneration with brain iron accumulation (NBIA), and dystonia-parkinsonism. Iron 195-199 phospholipase A2 group VI Homo sapiens 29-35 20629144-1 2010 Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Iron 29-33 phospholipase A2 group VI Homo sapiens 209-215 20938027-1 2010 BACKGROUND: PLA2G6 is the causative gene for infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome. Iron 118-122 phospholipase A2 group VI Homo sapiens 12-18 20938027-11 2010 CONCLUSIONS: Although the clinical presentation of PLA2G6-associated neurodegeneration was reported to be homogeneous, our findings suggest patients with PLA2G6 mutation could show heterogeneous phenotype such as dystonia-parkinsonism, dementia, frontotemporal atrophy/hypoperfusion, with or without brain iron accumulation. Iron 306-310 phospholipase A2 group VI Homo sapiens 51-57 19087156-1 2009 BACKGROUND: PLA2G6 mutations are known to be responsible for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA). Iron 133-137 phospholipase A2 group VI Homo sapiens 12-18 18799783-1 2008 OBJECTIVE: Mutations in the gene encoding phospholipase A(2) group VI (PLA2G6) are associated with two childhood neurologic disorders: infantile neuroaxonal dystrophy (INAD) and idiopathic neurodegeneration with brain iron accumulation (NBIA). Iron 218-222 phospholipase A2 group VI Homo sapiens 42-69 18570303-4 2009 INTERPRETATION: PLA2G6 mutations are associated with infantile neuroaxonal dystrophy and have been reported previously to cause early cerebellar signs, and the syndrome was classified as neurodegeneration with brain iron accumulation (type 2). Iron 216-220 phospholipase A2 group VI Homo sapiens 16-22 18570303-6 2009 Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging. Iron 128-132 phospholipase A2 group VI Homo sapiens 19-25 18799783-1 2008 OBJECTIVE: Mutations in the gene encoding phospholipase A(2) group VI (PLA2G6) are associated with two childhood neurologic disorders: infantile neuroaxonal dystrophy (INAD) and idiopathic neurodegeneration with brain iron accumulation (NBIA). Iron 218-222 phospholipase A2 group VI Homo sapiens 71-77 18799783-11 2008 PLA2G6 mutations are associated with nearly all cases of classic infantile neuroaxonal dystrophy but a minority of cases of idiopathic neurodegeneration with brain iron accumulation, and genotype correlates with phenotype. Iron 164-168 phospholipase A2 group VI Homo sapiens 0-6 18202189-1 2008 Mutations in the PLA2G6 gene, which encodes group VIA calcium-independent phospholipase A2 (iPLA(2)beta), were recently identified in patients with infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation. Iron 220-224 phospholipase A2 group VI Homo sapiens 17-23 18202189-1 2008 Mutations in the PLA2G6 gene, which encodes group VIA calcium-independent phospholipase A2 (iPLA(2)beta), were recently identified in patients with infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation. Iron 220-224 phospholipase A2 group VI Homo sapiens 92-103 17101456-1 2006 Neuroferritinopathy (MIM 606159, also labeled hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2, NBIA2) is an adult-onset progressive movement disorder caused by mutations in the ferritin light chain gene (FTL1). Iron 105-109 phospholipase A2 group VI Homo sapiens 131-136 35122944-0 2022 Vitamin E prevents lipid peroxidation and iron accumulation in PLA2G6-Associated Neurodegeneration. Iron 42-46 phospholipase A2 group VI Homo sapiens 63-69 16783378-0 2006 PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Iron 95-99 phospholipase A2 group VI Homo sapiens 0-6 16783378-2 2006 We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. Iron 94-98 phospholipase A2 group VI Homo sapiens 171-177 34387792-0 2021 Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson"s disease with brain iron accumulation through pseudo-exon activation. Iron 90-94 phospholipase A2 group VI Homo sapiens 32-38 35122944-1 2022 BACKGROUND: PLA2G6-Associated Neurodegeneration (PLAN) is a rare neurodegenerative disease with autosomal recessive inheritance, which belongs to the NBIA (Neurodegeneration with Brain Iron Accumulation) group. Iron 185-189 phospholipase A2 group VI Homo sapiens 12-18 30707893-0 2019 Impaired iPLA2beta activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA2beta activity as the cause of iron deposition in PLAN. Iron 36-40 phospholipase A2 group VI Homo sapiens 9-18 31489256-3 2019 Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron accumulation (NBIA) related to PANK2 and PLA2G6 mutations. Iron 101-105 phospholipase A2 group VI Homo sapiens 147-153 30707893-1 2019 PLA2G6-associated neurodegeneration (PLAN, NBIA2) is the second most common type of neurodegeneration with brain iron accumulation (NBIA), caused by recessive mutations of PLA2G6 gene, which encodes Ca2+-independent phospholipase A2beta (iPLA2beta). Iron 113-117 phospholipase A2 group VI Homo sapiens 0-6 30707893-1 2019 PLA2G6-associated neurodegeneration (PLAN, NBIA2) is the second most common type of neurodegeneration with brain iron accumulation (NBIA), caused by recessive mutations of PLA2G6 gene, which encodes Ca2+-independent phospholipase A2beta (iPLA2beta). Iron 113-117 phospholipase A2 group VI Homo sapiens 43-48 30707893-1 2019 PLA2G6-associated neurodegeneration (PLAN, NBIA2) is the second most common type of neurodegeneration with brain iron accumulation (NBIA), caused by recessive mutations of PLA2G6 gene, which encodes Ca2+-independent phospholipase A2beta (iPLA2beta). Iron 113-117 phospholipase A2 group VI Homo sapiens 172-178 30707893-10 2019 Under the condition of decreased iPLA2beta activity, there was no obvious iron accumulation but iron uptake activity decreased and iron storage activity increased. Iron 74-78 phospholipase A2 group VI Homo sapiens 33-42 30707893-10 2019 Under the condition of decreased iPLA2beta activity, there was no obvious iron accumulation but iron uptake activity decreased and iron storage activity increased. Iron 96-100 phospholipase A2 group VI Homo sapiens 33-42 30707893-10 2019 Under the condition of decreased iPLA2beta activity, there was no obvious iron accumulation but iron uptake activity decreased and iron storage activity increased. Iron 96-100 phospholipase A2 group VI Homo sapiens 33-42 27942883-1 2017 A recessive mutation in PLA2G6, which is known to cause infantile neuroaxonal dystrophy (INAD) and neurodegeneration associated with brain iron accumulation (NBIA), has recently been shown to be responsible for PARK14-linked dystonia-parkinsonism. Iron 139-143 phospholipase A2 group VI Homo sapiens 24-30 30302010-1 2019 PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). Iron 168-172 phospholipase A2 group VI Homo sapiens 0-6 30042723-0 2018 Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson"s Disease. Iron 38-42 phospholipase A2 group VI Homo sapiens 13-19 29916839-1 2018 PLA2G6-associated neurodegeneration is a major subtype of neurodegeneration with brain iron accumulation. Iron 87-91 phospholipase A2 group VI Homo sapiens 0-6 27141409-2 2016 Mutations in PLA2G6 are associated with a number of neurodegenerative disorders including neurodegeneration with brain iron accumulation (NBIA), infantile neuroaxonal dystrophy (INAD), and dystonia parkinsonism, collectively known as PLA2G6-associated neurodegeneration (PLAN). Iron 119-123 phospholipase A2 group VI Homo sapiens 13-19