2007-09-01
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Publication
Publication
Nature Genetics , Volume 39 - Issue 9 p. 1068- 1070
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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| doi.org/10.1038/ng2082, hdl.handle.net/1765/36594 | |
| Nature Genetics | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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Richards, A., Dichgans, M., Jen, J., Kavanagh, D., Bertram, P., Spitzer, D., … Atkinson, J. (2007). C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nature Genetics, 39(9), 1068–1070. doi:10.1038/ng2082 |
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