C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculo...
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
About this item
Full title
Author / Creator
Richards, Anna , van den Maagdenberg, Arn M J M , Jen, Joanna C , Kavanagh, David , Bertram, Paula , Spitzer, Dirk , Liszewski, M Kathryn , Barilla-LaBarca, Maria-Louise , Terwindt, Gisela M , Kasai, Yumi , McLellan, Mike , Grand, Mark Gilbert , Vanmolkot, Kaate R J , de Vries, Boukje , Wan, Jijun , Kane, Michael J , Mamsa, Hafsa , Schäfer, Ruth , Stam, Anine H , Haan, Joost , de Jong, Paulus T V M , Storimans, Caroline W , van Schooneveld, Mary J , Oosterhuis, Jendo A , Gschwendter, Andreas , Dichgans, Martin , Kotschet, Katya E , Hodgkinson, Suzanne , Hardy, Todd A , Delatycki, Martin B , Hajj-Ali, Rula A , Kothari, Parul H , Nelson, Stanley F , Frants, Rune R , Baloh, Robert W , Ferrari, Michel D and Atkinson, John P
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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....
Alternative Titles
Full title
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Authors, Artists and Contributors
Author / Creator
van den Maagdenberg, Arn M J M
Jen, Joanna C
Kavanagh, David
Bertram, Paula
Spitzer, Dirk
Liszewski, M Kathryn
Barilla-LaBarca, Maria-Louise
Terwindt, Gisela M
Kasai, Yumi
McLellan, Mike
Grand, Mark Gilbert
Vanmolkot, Kaate R J
de Vries, Boukje
Wan, Jijun
Kane, Michael J
Mamsa, Hafsa
Schäfer, Ruth
Stam, Anine H
Haan, Joost
de Jong, Paulus T V M
Storimans, Caroline W
van Schooneveld, Mary J
Oosterhuis, Jendo A
Gschwendter, Andreas
Dichgans, Martin
Kotschet, Katya E
Hodgkinson, Suzanne
Hardy, Todd A
Delatycki, Martin B
Hajj-Ali, Rula A
Kothari, Parul H
Nelson, Stanley F
Frants, Rune R
Baloh, Robert W
Ferrari, Michel D
Atkinson, John P
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_68219092
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68219092
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng2082
