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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2007-12-28
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pubmed:abstractText |
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. The mutations result in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment of Golgi trafficking in fibroblasts from affected individuals. These results indicate that the a2 subunit of the proton pump has an important role in Golgi function.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1546-1718
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pubmed:author |
pubmed-author:ARCL Debré-type Study Group,
pubmed-author:AnnaertWimW,
pubmed-author:BrunnerHan GHG,
pubmed-author:BuddeBirgitB,
pubmed-author:DimopoulouAikateriniA,
pubmed-author:FischerBjoernB,
pubmed-author:FoulquierFrancoisF,
pubmed-author:GruenewaldStephanieS,
pubmed-author:KornakUweU,
pubmed-author:LefeberDirkD,
pubmed-author:MatthijsGertG,
pubmed-author:MoravaEvaE,
pubmed-author:MundlosStefanS,
pubmed-author:NürnbergPeterP,
pubmed-author:RajabAnnaA,
pubmed-author:ReyndersEllenE,
pubmed-author:UrbanZsoltZ,
pubmed-author:Van MaldergemLionelL,
pubmed-author:WeversRonR,
pubmed-author:van BokhovenHansH,
pubmed-author:van ReeuwijkJeroenJ
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pubmed:issnType |
Electronic
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pubmed:volume |
40
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
32-4
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pubmed:dateRevised |
2008-2-20
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pubmed:meshHeading |
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pubmed:year |
2008
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pubmed:articleTitle |
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
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pubmed:affiliation |
Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics, Berlin, Germany. uwe.kornak@charite.de
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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