PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
| العنوان: | PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron |
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| المؤلفون: | Jane Gitschier, Richard C. Trembath, Shawn K. Westaway, Jason Coryell, Carolyn Schanen, Paul Gissen, Shanaz Pasha, Nardo Nardocci, Alessandro Simonati, Jenny Morton, Beth Wilmot, Patricia L. Kramer, Isabelle Desguerre, Enrico Bertini, Colin A. Johnson, Allison Gregory, Giovanna Zorzi, Barbara Levinson, Neil V. Morgan, C. Geoffrey Woods, Natalie Canham, Amar Mubaidin, Hakan Cangul, Eamonn R. Maher, Susan J. Hayflick, Scott Sonek, Diana Rodriguez |
| المساهمون: | Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Cangül, Hakan |
| المصدر: | Nature Genetics. 38:752-754 |
| بيانات النشر: | Springer Science and Business Media LLC, 2006. |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | Male, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation, Chromosomes, Human, Pair 22, INAD, NBIA, PLA2G6, Neuroferritinopathy, Pathogenesis, Nervous System, Gene, Gene locus, Phospholipase A2, Homeostasis, Missense mutation, Karak syndrome, Genetics, biology, Genetics & heredity, Brain, Syndrome, Parkinson disease, Heredodegenerative Disorders, Nervous System, Female, Heredodegenerative Disorders, Alzheimer disease, Alzheimer's disease, Human, Iron, Neuroaxonal Dystrophies, Neuroaxonal dystrophy, Article, Phospholipases A, WDR45, Hallervorden-spatz-syndrome, Frameshift mutation, medicine, Humans, Chromosome 22q, Gene mutation, Nerve degeneration, Gene mapping, medicine.disease, PANK2, Phospholipases A2, Degenerative disease, Mutation, biology.protein, Calcium, Involvement, PLA2G6 gene, Pantothenate Kinase-Associated Neurodegeneration, Neurodegeneration with Brain Iron Accumulation |
| الوصف: | Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. 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 A(2), in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis. United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)-R01HD050832 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR)-M01RR000334 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Eye Institute (NEI)-R01EY012353 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI)-N01HG065403 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Aging (NIA)-P30AG008017 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR)-M01 RR000334 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Eye Institute (NEI)-R01 EY012353-07, R01 EY012353 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI)-N01HG65403 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Aging (NIA)-P30 AG008017 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)-R01 HD050832-01A1, R01 HD050832 Fondazione Telethon-GTF04002 |
| وصف الملف: | application/pdf |
| تدمد: | 1546-1718 1061-4036 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd43b680d45e7dc979a73b0d09e171d1Test https://doi.org/10.1038/ng1826Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....cd43b680d45e7dc979a73b0d09e171d1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15461718 10614036 |
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