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Lookup NU author(s): Professor David KavanaghORCiD
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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.
Author(s): Richards A, van den Maagdenberg A, Jen J, Kavanagh D, Bertram P, Spitzer D, Liszewski K, Barilla-LaBarca M, Terwindt G, Kasai Y, McLellan M, Grand M, Vanmolkot K, de Vries B, Wan J, Kane M, Mamsa H, Schafer R, Stam A, Haan J, de Jong P, Storimans C, van Schooneveld M, Oosterhuis J, Gschwendter A, Dichgans M, Kotschet K, Hodgkinson S, Hardy T, Delatycki M, Hajj-Ali R, Kothari P, Nelson S, Frants R, Baloh R, Ferrari M, Atkinson JP
Publication type: Article
Publication status: Published
Journal: Nature Genetics
Year: 2007
Volume: 39
Issue: 9
Pages: 1068-1070
ISSN (print): 1061-4036
ISSN (electronic): 1546-1718
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/ng2082
DOI: 10.1038/ng2082
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