http://hdl.handle.net/1765/36594
http://dx.doi.org/10.1038/ng2082
pubmed: 17660820
scopus: 34548334617
http://dx.doi.org/10.1038/ng2082
pubmed: 17660820
scopus: 34548334617
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
September 2007
Article
volume 39, issue 9 pp 1068-1070.
Repository contains one file which is not publicly available
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.
