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PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

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dc.contributor.authorMorgan, Neil V.
dc.contributor.authorWestaway, Shawn K
dc.contributor.authorMorton, Jenny E. V.
dc.contributor.authorGregory, Allison
dc.contributor.authorGissen, Paul
dc.contributor.authorSonek, Scott
dc.contributor.authorCoryell, Jason
dc.contributor.authorCanham, Natalie
dc.contributor.authorNardocci, Nardo
dc.contributor.authorGiovanna, Giovanna
dc.contributor.authorShanaz, Shanaz
dc.contributor.authorRodriguez, Diana
dc.contributor.authorDesguerre, Isabelle
dc.contributor.authorMubaidin, Amar
dc.contributor.authorBertin, Enrico
dc.contributor.authorTrembath, Richard C.
dc.contributor.authorSimonati, Alessandro
dc.contributor.authorSchanen, Carolyn
dc.contributor.authorJohnson, Colin A.
dc.contributor.authorLevinson, Barbara
dc.contributor.authorWoods, C. Geoffrey
dc.contributor.authorWilmot, Beth
dc.contributor.authorKramer, Patricia
dc.contributor.authorGitschier, Jane
dc.contributor.authorMaher, Eamonn R.
dc.contributor.authorHayflick, Susan J.
dc.contributor.buuauthorCangül, Hakan
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıbbi Genetik Ana Bilim Dalı
dc.contributor.scopusid8911611600tr_TR
dc.date.accessioned2021-08-11T12:03:27Z
dc.date.available2021-08-11T12:03:27Z
dc.date.issued2006
dc.description.abstractNeurodegenerative 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.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)-R01HD050832en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR)-M01RR000334en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Eye Institute (NEI)-R01EY012353en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI)-N01HG065403en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Aging (NIA)-P30AG008017en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR)-M01 RR000334en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Eye Institute (NEI)-R01 EY012353-07, R01 EY012353en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI)-N01HG65403en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Aging (NIA)-P30 AG008017en_US
dc.description.sponsorshipUnited 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 HD050832en_US
dc.description.sponsorshipFondazione Telethon-GTF04002en_US
dc.identifier.citationMorgan, 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.endpage754tr_TR
dc.identifier.issn1061-4036
dc.identifier.issue7tr_TR
dc.identifier.pubmed16783378tr_TR
dc.identifier.scopus2-s2.0-33745553895tr_TR
dc.identifier.startpage752tr_TR
dc.identifier.urihttps://doi.org/10.1038/ng1826
dc.identifier.uri1061-4036
dc.identifier.urihttp://hdl.handle.net/11452/21406
dc.identifier.volume38tr_TR
dc.identifier.wos000238669300009
dc.indexed.pubmedPubmeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalNature Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGenetics & heredityen_US
dc.subjectInvolvementen_US
dc.subjectHallervorden-spatz-syndromeen_US
dc.subjectInfantile neuroaxonal dystrophyen_US
dc.subject.emtreeCalciumen_US
dc.subject.emtreeIronen_US
dc.subject.emtreePhospholipase A2en_US
dc.subject.emtreeAlzheimer diseaseen_US
dc.subject.emtreeChromosome 22qen_US
dc.subject.emtreeDegenerative diseaseen_US
dc.subject.emtreeFrameshift mutationen_US
dc.subject.emtreeGeneen_US
dc.subject.emtreeGene locusen_US
dc.subject.emtreeGene mappingen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeHomeostasisen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeKarak syndromeen_US
dc.subject.emtreeMissense mutationen_US
dc.subject.emtreeNerve degenerationen_US
dc.subject.emtreeNeuroaxonal dystrophyen_US
dc.subject.emtreeParkinson diseaseen_US
dc.subject.emtreePathogenesisen_US
dc.subject.emtreePLA2G6 geneen_US
dc.subject.meshBrainen_US
dc.subject.meshChromosomes, Human, Pair 22en_US
dc.subject.meshFemaleen_US
dc.subject.meshHeredodegenerative Disordersen_US
dc.subject.meshNervous Systemen_US
dc.subject.meshHumansen_US
dc.subject.meshIronen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshNeuroaxonal Dystrophiesen_US
dc.subject.meshPhospholipases Aen_US
dc.subject.meshSyndromeen_US
dc.subject.scopusPantothenate Kinase-Associated Neurodegeneration; Neuroaxonal Dystrophies; Neurodegeneration with Brain Iron Accumulationen_US
dc.subject.wosGenetics & heredityen_US
dc.titlePLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain ironen_US
dc.typeArticle
dc.wos.quartileQ1en_US
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Tıbbi Genetik Ana Bilim Dalıtr_TR

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