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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.scopusid8911611600
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.
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)-R01HD050832
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR)-M01RR000334
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Eye Institute (NEI)-R01EY012353
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI)-N01HG065403
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Aging (NIA)-P30AG008017
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR)-M01 RR000334
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Eye Institute (NEI)-R01 EY012353-07, R01 EY012353
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI)-N01HG65403
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Aging (NIA)-P30 AG008017
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 HD050832
dc.description.sponsorshipFondazione Telethon-GTF04002
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.
dc.identifier.endpage754
dc.identifier.issn1061-4036
dc.identifier.issue7
dc.identifier.pubmed16783378
dc.identifier.scopus2-s2.0-33745553895
dc.identifier.startpage752
dc.identifier.urihttps://doi.org/10.1038/ng1826
dc.identifier.uri1061-4036
dc.identifier.urihttp://hdl.handle.net/11452/21406
dc.identifier.volume38
dc.identifier.wos000238669300009
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.collaborationYurt dışı
dc.relation.collaborationSanayi
dc.relation.journalNature Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetics & heredity
dc.subjectInvolvement
dc.subjectHallervorden-spatz-syndrome
dc.subjectInfantile neuroaxonal dystrophy
dc.subject.emtreeCalcium
dc.subject.emtreeIron
dc.subject.emtreePhospholipase A2
dc.subject.emtreeAlzheimer disease
dc.subject.emtreeChromosome 22q
dc.subject.emtreeDegenerative disease
dc.subject.emtreeFrameshift mutation
dc.subject.emtreeGene
dc.subject.emtreeGene locus
dc.subject.emtreeGene mapping
dc.subject.emtreeGene mutation
dc.subject.emtreeHomeostasis
dc.subject.emtreeHuman
dc.subject.emtreeKarak syndrome
dc.subject.emtreeMissense mutation
dc.subject.emtreeNerve degeneration
dc.subject.emtreeNeuroaxonal dystrophy
dc.subject.emtreeParkinson disease
dc.subject.emtreePathogenesis
dc.subject.emtreePLA2G6 gene
dc.subject.meshBrain
dc.subject.meshChromosomes, Human, Pair 22
dc.subject.meshFemale
dc.subject.meshHeredodegenerative Disorders
dc.subject.meshNervous System
dc.subject.meshHumans
dc.subject.meshIron
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshNeuroaxonal Dystrophies
dc.subject.meshPhospholipases A
dc.subject.meshSyndrome
dc.subject.scopusPantothenate Kinase-Associated Neurodegeneration; Neuroaxonal Dystrophies; Neurodegeneration with Brain Iron Accumulation
dc.subject.wosGenetics & heredity
dc.titlePLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron
dc.typeArticle
dc.wos.quartileQ1
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS

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