Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/38595
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dc.contributor.authorKmoch, S.
dc.contributor.authorMajewski, J.
dc.contributor.authorRamamurthy, V.
dc.contributor.authorCao, S.
dc.contributor.authorFahiminiya, S.
dc.contributor.authorRen, H.
dc.contributor.authorMacDonald, I. M.
dc.contributor.authorLopez, I.
dc.contributor.authorSun, V.
dc.contributor.authorKeser, V.
dc.contributor.authorKhan, A.
dc.contributor.authorStranecky, V.
dc.contributor.authorHartmannova, H.
dc.contributor.authorPristoupilova, A.
dc.contributor.authorHodanova, K.
dc.contributor.authorPiherova, L.
dc.contributor.authorKuchar, L.
dc.contributor.authorBaxova, A.
dc.contributor.authorChen, R.
dc.contributor.authorBarsottini, O. G. P. [UNIFESP]
dc.contributor.authorPyle, A.
dc.contributor.authorGriffin, H.
dc.contributor.authorSplitt, M.
dc.contributor.authorSallum, J. [UNIFESP]
dc.contributor.authorTolmie, J. L.
dc.contributor.authorSampson, J. R.
dc.contributor.authorChinnery, P.
dc.contributor.authorBanin, E.
dc.contributor.authorSharon, D.
dc.contributor.authorDutta, S.
dc.contributor.authorGrebler, R.
dc.contributor.authorHelfrich-Foerster, C.
dc.contributor.authorPedroso, J. L. [UNIFESP]
dc.contributor.authorKretzschmar, D.
dc.contributor.authorCayouette, M.
dc.contributor.authorKoenekoop, R. K.
dc.contributor.authorCare4Rare Canadaz
dc.date.accessioned2016-01-24T14:39:50Z-
dc.date.available2016-01-24T14:39:50Z-
dc.date.issued2015-01-01
dc.identifierhttp://dx.doi.org/10.1038/ncomms6614
dc.identifier.citationNature Communications. London: Nature Publishing Group, v. 6, 10 p., 2015.
dc.identifier.issn2041-1723
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/38595-
dc.description.abstractBlindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esterase (NTE), which is the target of toxic organophosphates that induce human paralysis due to severe axonopathy of large neurons. Mutations in PNPLA6 also cause human spastic paraplegia characterized by motor neuron degeneration. Here we identify PNPLA6 mutations in childhood blindness in seven families with retinal degeneration, including Leber congenital amaurosis and Oliver McFarlane syndrome. PNPLA6 localizes mostly at the inner segment plasma membrane in photo-receptors and mutations in Drosophila PNPLA6 lead to photoreceptor cell death. We also report that lysophosphatidylcholine and lysophosphatidic acid levels are elevated in mutant Drosophila. These findings show a role for PNPLA6 in photoreceptor survival and identify phospholipid metabolism as a potential therapeutic target for some forms of blindness.en
dc.description.sponsorshipFoundation Fighting Blindness Canada
dc.description.sponsorshipCanadian Institutes of Health Research
dc.description.sponsorshipNIH
dc.description.sponsorshipCharles University institutional programmes
dc.description.sponsorshipBIOCEV-Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University, from the European Regional Development Fund
dc.description.sponsorshipMinistry of Health of the Czech Republic
dc.description.sponsorshipGraduate School of Life Sciences (University of Wuerzburg)
dc.description.sponsorshipGovernment of Canada through Genome Canada
dc.description.sponsorshipOntario Genomics Institute
dc.description.sponsorshipGenome Quebec
dc.description.sponsorshipGenome British Columbia
dc.description.sponsorshipMcLaughlin Centre
dc.format.extent10
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.ispartofNature Communications
dc.rightsAcesso restrito
dc.titleMutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindnessen
dc.typeArtigo
dc.contributor.institutionCharles Univ Prague
dc.contributor.institutionMcGill Univ
dc.contributor.institutionGenome Quebec Innovat Ctr
dc.contributor.institutionClin Res Inst Montreal
dc.contributor.institutionUniv Alberta
dc.contributor.institutionBaylor Coll Med
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionNewcastle Univ
dc.contributor.institutionSo Gen Hosp
dc.contributor.institutionCardiff Univ
dc.contributor.institutionHadassah Hebrew Univ Med Ctr
dc.contributor.institutionOregon Hlth & Sci Univ
dc.contributor.institutionUniv Wurzburg
dc.contributor.institutionUniv Montreal
dc.description.affiliationCharles Univ Prague, Inst Inherited Metab Disorders, Fac Med 1, Prague 12000 2, Czech Republic
dc.description.affiliationMcGill Univ, Dept Human Genet, Fac Med, Montreal, PQ H3A 0G1, Canada
dc.description.affiliationGenome Quebec Innovat Ctr, Montreal, PQ H3A 0G1, Canada
dc.description.affiliationClin Res Inst Montreal, Cellular Neurobiol Res Unit, Montreal, PQ H2W 1R7, Canada
dc.description.affiliationMcGill Univ, Montreal, PQ H3A 0G4, Canada
dc.description.affiliationMcGill Univ, Ctr Hlth, Montreal Childrens Hosp, McGill Ocular Genet Lab, Montreal, PQ H3H 1P3, Canada
dc.description.affiliationMcGill Univ, Ctr Hlth, Montreal Childrens Hosp, Dept Paediat Surg, Montreal, PQ H3H 1P3, Canada
dc.description.affiliationMcGill Univ, Ctr Hlth, Montreal Childrens Hosp, Dept Human Genet, Montreal, PQ H3H 1P3, Canada
dc.description.affiliationMcGill Univ, Ctr Hlth, Montreal Childrens Hosp, Dept Ophthalmol, Montreal, PQ H3H 1P3, Canada
dc.description.affiliationUniv Alberta, Royal Alexandra Hosp, Dept Ophthalmol & Visual Sci, Edmonton, AB T5H 3V9, Canada
dc.description.affiliationCharles Univ Prague, Inst Biol & Med Genet, Fac Med 1, Prague 12000 2, Czech Republic
dc.description.affiliationBaylor Coll Med, Dept Mol & Human Genet, Human Genome Sequencing Ctr, Houston, TX 77030 USA
dc.description.affiliationUniversidade Federal de São Paulo, Dept Neurol, Div Gen Neurol, BR-04021001 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Neurol, Ataxia Unit, BR-04021001 São Paulo, Brazil
dc.description.affiliationNewcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
dc.description.affiliationUniversidade Federal de São Paulo, Dept Ophthalmol, BR-04021001 São Paulo, Brazil
dc.description.affiliationSo Gen Hosp, Dept Clin Genet, Glasgow G51 4TF, Lanark, Scotland
dc.description.affiliationCardiff Univ, Sch Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
dc.description.affiliationHadassah Hebrew Univ Med Ctr, Dept Ophthalmol, IL-91120 Jerusalem, Israel
dc.description.affiliationOregon Hlth & Sci Univ, Oregon Inst Occupat Hlth Sci, Portland, OR 97239 USA
dc.description.affiliationUniv Wurzburg, Lehrstuhl Neurobiol & Genet, D-97074 Wurzburg, Germany
dc.description.affiliationUniv Montreal, Dept Med, Montreal, PQ H3T 1P1, Canada
dc.description.affiliationMcGill Univ, Dept Anat & Cell Biol, Div Expt Med, Montreal, PQ H3A 2B2, Canada
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Neurol, Div Gen Neurol, BR-04021001 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Neurol, Ataxia Unit, BR-04021001 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Ophthalmol, BR-04021001 São Paulo, Brazil
dc.description.sponsorshipIDNIH: EY022356-01
dc.description.sponsorshipIDNIH: EY018571-05
dc.description.sponsorshipIDNIH: NS047663-09
dc.description.sponsorshipIDCharles University institutional programmes: PRVOUK-P24/LF1/3
dc.description.sponsorshipIDCharles University institutional programmes: UNCE 204011
dc.description.sponsorshipIDCharles University institutional programmes: SVV2013/266504
dc.description.sponsorshipIDBIOCEV-Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University, from the European Regional Development Fund: CZ.1.05/1.1.00/02.0109
dc.description.sponsorshipIDMinistry of Health of the Czech Republic: NT13116-4/2012
dc.description.sponsorshipIDMinistry of Health of the Czech Republic: NT14015-3/2013
dc.description.sponsorshipIDOntario Genomics Institute: OGI-049
dc.identifier.doi10.1038/ncomms6614
dc.description.sourceWeb of Science
dc.identifier.wosWOS:000348644000001
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