Publication:

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy (2007)

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

    Abstract: 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.

    • Type of Article: Brief Communication abstract
    • Date: 29-07-2007
    • Journal: Nature Genetics
    • Volume: 39
    • Issue: 9
    • Pages: 1068-1070
    • Publisher: Nature Publishing Group
    • Publication type: Article
    • Bibliographic status: Published
    Staff

    Dr David Kavanagh
    Clinical Senior Lecturer/LocumConsultant