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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2007-8-30
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pubmed:abstractText |
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal perinuclear localization. These data have implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias.
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pubmed:grant |
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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 |
Sep
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:AtkinsonJohn PJP,
pubmed-author:BalohRobert WRW,
pubmed-author:Barilla-LabarcaMaria-LouiseML,
pubmed-author:BertramPaulaP,
pubmed-author:DelatyckiMartin BMB,
pubmed-author:DichgansMartinM,
pubmed-author:FerrariMichel DMD,
pubmed-author:FrantsRune RRR,
pubmed-author:GrandMark GilbertMG,
pubmed-author:GschwendterAndreasA,
pubmed-author:HaanJoostJ,
pubmed-author:Hajj-AliRula ARA,
pubmed-author:HardyTodd ATA,
pubmed-author:HodgkinsonSuzanneS,
pubmed-author:JenJoanna CJC,
pubmed-author:KaneMichael JMJ,
pubmed-author:KasaiYumiY,
pubmed-author:KavanaghDavidD,
pubmed-author:KothariParul HPH,
pubmed-author:KotschetKatya EKE,
pubmed-author:LiszewskiM KathrynMK,
pubmed-author:MamsaHafsaH,
pubmed-author:McLellanMikeM,
pubmed-author:NelsonStanley FSF,
pubmed-author:OosterhuisJendo AJA,
pubmed-author:RichardsAnnaA,
pubmed-author:SchäferRuthR,
pubmed-author:SpitzerDirkD,
pubmed-author:StamAnine HAH,
pubmed-author:StorimansCaroline WCW,
pubmed-author:TerwindtGisela MGM,
pubmed-author:VanmolkotKaate R JKR,
pubmed-author:WanJijunJ,
pubmed-author:de JongPaulus T V MPT,
pubmed-author:de VriesBoukjeB,
pubmed-author:van SchooneveldMary JMJ,
pubmed-author:van den MaagdenbergArn M J MAM
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pubmed:issnType |
Print
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pubmed:volume |
39
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1068-70
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pubmed:meshHeading |
pubmed-meshheading:17660820-Amino Acid Sequence,
pubmed-meshheading:17660820-Brain Diseases,
pubmed-meshheading:17660820-Cell Line,
pubmed-meshheading:17660820-Cell Nucleus,
pubmed-meshheading:17660820-Cytoplasm,
pubmed-meshheading:17660820-Exodeoxyribonucleases,
pubmed-meshheading:17660820-Genes, Dominant,
pubmed-meshheading:17660820-Genetic Predisposition to Disease,
pubmed-meshheading:17660820-Humans,
pubmed-meshheading:17660820-Luminescent Proteins,
pubmed-meshheading:17660820-Microscopy, Confocal,
pubmed-meshheading:17660820-Molecular Sequence Data,
pubmed-meshheading:17660820-Mutation,
pubmed-meshheading:17660820-Phosphoproteins,
pubmed-meshheading:17660820-Recombinant Fusion Proteins,
pubmed-meshheading:17660820-Retinal Diseases,
pubmed-meshheading:17660820-Sequence Homology, Amino Acid,
pubmed-meshheading:17660820-Transfection
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pubmed:year |
2007
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pubmed:articleTitle |
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
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pubmed:affiliation |
Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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