Journal
NATURE GENETICS
Volume 39, Issue 9, Pages 1068-1070Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng2082
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Funding
- NEI NIH HHS [R01 EY15311] Funding Source: Medline
- NIDCD NIH HHS [P50 DC02952] Funding Source: Medline
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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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