1. Açık Erişim@BUU
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Please use this identifier to cite or link to this item: http://hdl.handle.net/11452/21406
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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.date.accessioned2021-08-11T12:03:27Z-
dc.date.available2021-08-11T12:03:27Z-
dc.date.issued2006-
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.issn1061-4036-
dc.identifier.urihttps://doi.org/10.1038/ng1826-
dc.identifier.uri1061-4036-
dc.identifier.urihttp://hdl.handle.net/11452/21406-
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.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectGenetics & heredityen_US
dc.subjectInvolvementen_US
dc.subjectHallervorden-spatz-syndromeen_US
dc.subjectInfantile neuroaxonal dystrophyen_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.titlePLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain ironen_US
dc.typeArticleen_US
dc.identifier.wos000238669300009tr_TR
dc.identifier.scopus2-s2.0-33745553895tr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.tr_TR
dc.identifier.startpage752tr_TR
dc.identifier.endpage754tr_TR
dc.identifier.volume38tr_TR
dc.identifier.issue7tr_TR
dc.relation.journalNature Geneticsen_US
dc.contributor.buuauthorCangül, Hakan-
dc.relation.collaborationYurt dışıtr_TR
dc.relation.collaborationSanayitr_TR
dc.identifier.pubmed16783378tr_TR
dc.subject.wosGenetics & heredityen_US
dc.indexed.wosSCIEen_US
dc.indexed.scopusScopusen_US
dc.indexed.pubmedPubmeden_US
dc.wos.quartileQ1en_US
dc.contributor.scopusid8911611600tr_TR
dc.subject.scopusPantothenate Kinase-Associated Neurodegeneration; Neuroaxonal Dystrophies; Neurodegeneration with Brain Iron Accumulationen_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
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