C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Autor:	Todd A. Hardy, Anna Richards, M. Kathryn Liszewski, Martin B. Delatycki, Martin Dichgans, Boukje de Vries, Arn M. J. M. van den Maagdenberg, J. A. Oosterhuis, Joost Haan, Mark Gilbert Grand, Hafsa Mamsa, Andreas Gschwendter, Mary J. van Schooneveld, Gisela M. Terwindt, Ruth Schäfer, Michael J. Kane, Kaate R J Vanmolkot, Paulus T. V. M. de Jong, John P. Atkinson, Suzanne Hodgkinson, Dirk Spitzer, Stanley F. Nelson, Anine H. Stam, Maria Louise Barilla-Labarca, Katya E. Kotschet, Rune R. Frants, Paula Bertram, Yumi Kasai, Michel D. Ferrari, Parul H. Kothari, Robert W. Baloh, David J. Kavanagh, Joanna C. Jen, Jijun Wan, Caroline W. Storimans, Michael D. McLellan, Rula A. Hajj-Ali
Přispěvatelé:	ANS - Amsterdam Neuroscience, Ophthalmology, Other departments
Jazyk:	angličtina
Rok vydání:	2007
Předmět:	Exonuclease Cytoplasm NEPHROPATHY Recombinant Fusion Proteins Molecular Sequence Data VASCULAR RETINOPATHY DNA Exonuclease HEREDITARY ENDOTHELIOPATHY Transfection Cell Line Frameshift mutation Degenerative disease Retinal Diseases AICARDI-GOUTIERES-SYNDROME Autosomal dominant retinal vasculopathy with cerebral leukodystrophy LOCUS Genetics medicine Humans Genetic Predisposition to Disease Amino Acid Sequence Genes Dominant Cell Nucleus Brain Diseases Microscopy Confocal Sequence Homology Amino Acid biology Leukodystrophy Phosphoproteins medicine.disease Molecular biology Luminescent Proteins Exodeoxyribonucleases Mutation biology.protein Aicardi–Goutières syndrome CEREBRORETINAL VASCULOPATHY Cerebroretinal vasculopathy
Zdroj:	Nature Genetics, 39(9), 1068-1070. Nature Publishing Group Nature genetics, 39(9), 1068-1070. Nature Publishing Group
ISSN:	1061-4036
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7304e32bdf45a345c07f7ac2dcfc7395 https://doi.org/10.1038/ng2082 Zobrazit plný text záznamu Plný text ve formátu PDF