PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron
dc.contributor.author | Morgan, Neil V. | |
dc.contributor.author | Westaway, Shawn K | |
dc.contributor.author | Morton, Jenny E. V. | |
dc.contributor.author | Gregory, Allison | |
dc.contributor.author | Gissen, Paul | |
dc.contributor.author | Sonek, Scott | |
dc.contributor.author | Coryell, Jason | |
dc.contributor.author | Canham, Natalie | |
dc.contributor.author | Nardocci, Nardo | |
dc.contributor.author | Giovanna, Giovanna | |
dc.contributor.author | Shanaz, Shanaz | |
dc.contributor.author | Rodriguez, Diana | |
dc.contributor.author | Desguerre, Isabelle | |
dc.contributor.author | Mubaidin, Amar | |
dc.contributor.author | Bertin, Enrico | |
dc.contributor.author | Trembath, Richard C. | |
dc.contributor.author | Simonati, Alessandro | |
dc.contributor.author | Schanen, Carolyn | |
dc.contributor.author | Johnson, Colin A. | |
dc.contributor.author | Levinson, Barbara | |
dc.contributor.author | Woods, C. Geoffrey | |
dc.contributor.author | Wilmot, Beth | |
dc.contributor.author | Kramer, Patricia | |
dc.contributor.author | Gitschier, Jane | |
dc.contributor.author | Maher, Eamonn R. | |
dc.contributor.author | Hayflick, Susan J. | |
dc.contributor.buuauthor | Cangül, Hakan | |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı. | tr_TR |
dc.contributor.scopusid | 8911611600 | tr_TR |
dc.date.accessioned | 2021-08-11T12:03:27Z | |
dc.date.available | 2021-08-11T12:03:27Z | |
dc.date.issued | 2006 | |
dc.description.abstract | 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. | en_US |
dc.description.sponsorship | 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 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR)-M01RR000334 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Eye Institute (NEI)-R01EY012353 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI)-N01HG065403 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Aging (NIA)-P30AG008017 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR)-M01 RR000334 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Eye Institute (NEI)-R01 EY012353-07, R01 EY012353 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI)-N01HG65403 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Aging (NIA)-P30 AG008017 | en_US |
dc.description.sponsorship | 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 | en_US |
dc.description.sponsorship | Fondazione Telethon-GTF04002 | en_US |
dc.identifier.citation | Morgan, N. V. vd. (2006). ''PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron''. Nature Genetics, 38(7), 752-754. | en_US |
dc.identifier.endpage | 754 | tr_TR |
dc.identifier.issn | 1061-4036 | |
dc.identifier.issue | 7 | tr_TR |
dc.identifier.pubmed | 16783378 | tr_TR |
dc.identifier.scopus | 2-s2.0-33745553895 | tr_TR |
dc.identifier.startpage | 752 | tr_TR |
dc.identifier.uri | https://doi.org/10.1038/ng1826 | |
dc.identifier.uri | 1061-4036 | |
dc.identifier.uri | http://hdl.handle.net/11452/21406 | |
dc.identifier.volume | 38 | tr_TR |
dc.identifier.wos | 000238669300009 | tr_TR |
dc.indexed.pubmed | Pubmed | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.wos | SCIE | en_US |
dc.language.iso | en | en_US |
dc.publisher | Nature Publishing Group | en_US |
dc.relation.collaboration | Yurt dışı | tr_TR |
dc.relation.collaboration | Sanayi | tr_TR |
dc.relation.journal | Nature Genetics | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Genetics & heredity | en_US |
dc.subject | Involvement | en_US |
dc.subject | Hallervorden-spatz-syndrome | en_US |
dc.subject | Infantile neuroaxonal dystrophy | en_US |
dc.subject.emtree | Calcium | en_US |
dc.subject.emtree | Iron | en_US |
dc.subject.emtree | Phospholipase A2 | en_US |
dc.subject.emtree | Alzheimer disease | en_US |
dc.subject.emtree | Chromosome 22q | en_US |
dc.subject.emtree | Degenerative disease | en_US |
dc.subject.emtree | Frameshift mutation | en_US |
dc.subject.emtree | Gene | en_US |
dc.subject.emtree | Gene locus | en_US |
dc.subject.emtree | Gene mapping | en_US |
dc.subject.emtree | Gene mutation | en_US |
dc.subject.emtree | Homeostasis | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Karak syndrome | en_US |
dc.subject.emtree | Missense mutation | en_US |
dc.subject.emtree | Nerve degeneration | en_US |
dc.subject.emtree | Neuroaxonal dystrophy | en_US |
dc.subject.emtree | Parkinson disease | en_US |
dc.subject.emtree | Pathogenesis | en_US |
dc.subject.emtree | PLA2G6 gene | en_US |
dc.subject.mesh | Brain | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 22 | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Heredodegenerative Disorders | en_US |
dc.subject.mesh | Nervous System | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Iron | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Mutation | en_US |
dc.subject.mesh | Neuroaxonal Dystrophies | en_US |
dc.subject.mesh | Phospholipases A | en_US |
dc.subject.mesh | Syndrome | en_US |
dc.subject.scopus | Pantothenate Kinase-Associated Neurodegeneration; Neuroaxonal Dystrophies; Neurodegeneration with Brain Iron Accumulation | en_US |
dc.subject.wos | Genetics & heredity | en_US |
dc.title | PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron | en_US |
dc.type | Article | |
dc.wos.quartile | Q1 | en_US |