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

A. Richards; A.M. van den Maagdenberg; J.C. Jen; D. Kavanagh; P Bertram; D. Spitzer; M.K. Liszewski; M.L. Barilla-Labarca; GM Terwindt; Y. Kasai; M. McLellan; M.G. Grand; KRJ Vanmolkot; B. de Vries; J. Wan; M. Kane; H. Mamsa; R. Schafer; A.H. Stam; J Haan; PT. de Jong; C.W. Storimans; M.J. van Schooneveld; J.A. Oosterhuis; A. Gschwendter; M. Dichgans; K.E. Kotschet; S. Hodgkinson; T.A. Hardy; M.B. Delatycki; R.A. Haij-Ali; P.H. Kothari; S.F. Nelson; R.R. Frants; R.W. Baloh; M.D. Ferrari; J.P. Atkinson

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

Translated title of the contribution: C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

A. Richards
, A.M. van den Maagdenberg
, J.C. Jen
, D. Kavanagh
, P Bertram
, D. Spitzer
, M.K. Liszewski
, M.L. Barilla-Labarca
, GM Terwindt
, Y. Kasai
, M. McLellan
, M.G. Grand
, KRJ Vanmolkot
, B. de Vries
, J. Wan
, M. Kane
, H. Mamsa
, R. Schafer
, A.H. Stam
, J Haan

PT. de Jong, C.W. Storimans, M.J. van Schooneveld, J.A. Oosterhuis, A. Gschwendter, M. Dichgans, K.E. Kotschet, S. Hodgkinson, T.A. Hardy, M.B. Delatycki, R.A. Haij-Ali, P.H. Kothari, S.F. Nelson, R.R. Frants, R.W. Baloh, M.D. Ferrari, J.P. Atkinson

Department of Ophthalmology

Research output: Contribution to journal › Article › Academic › peer-review

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.

Translated title of the contribution	C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Original language	Undefined/Unknown
Pages (from-to)	1068-1070
Number of pages	3
Journal	Nature Genetics
Volume	39
Issue number	9
Publication status	Published - 2007

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)

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http://www.nature.com/ng/journal/v39/n9/abs/ng2082.html

Cite this

Richards, A., van den Maagdenberg, A. M., Jen, J. C., Kavanagh, D., Bertram, P., Spitzer, D., Liszewski, M. K., Barilla-Labarca, M. L., Terwindt, GM., Kasai, Y., McLellan, M., Grand, M. G., Vanmolkot, KRJ., de Vries, B., Wan, J., Kane, M., Mamsa, H., Schafer, R., Stam, A. H., ... Atkinson, J. P. (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. http://www.nature.com/ng/journal/v39/n9/abs/ng2082.html

@article{e47d7b24796d4b6da7a8bf1b951d4969,

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

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.",

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK)",

author = "A. Richards and \{van den Maagdenberg\}, A.M. and J.C. Jen and D. Kavanagh and P Bertram and D. Spitzer and M.K. Liszewski and M.L. Barilla-Labarca and GM Terwindt and Y. Kasai and M. McLellan and M.G. Grand and KRJ Vanmolkot and \{de Vries\}, B. and J. Wan and M. Kane and H. Mamsa and R. Schafer and A.H. Stam and J Haan and \{de Jong\}, PT. and C.W. Storimans and \{van Schooneveld\}, M.J. and J.A. Oosterhuis and A. Gschwendter and M. Dichgans and K.E. Kotschet and S. Hodgkinson and T.A. Hardy and M.B. Delatycki and R.A. Haij-Ali and P.H. Kothari and S.F. Nelson and R.R. Frants and R.W. Baloh and M.D. Ferrari and J.P. Atkinson",

year = "2007",

language = "Undefined/Unknown",

volume = "39",

pages = "1068--1070",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "9",

}

Richards, A, van den Maagdenberg, AM, Jen, JC, Kavanagh, D, Bertram, P, Spitzer, D, Liszewski, MK, Barilla-Labarca, ML, Terwindt, GM, Kasai, Y, McLellan, M, Grand, MG, Vanmolkot, KRJ, de Vries, B, Wan, J, Kane, M, Mamsa, H, Schafer, R, Stam, AH, Haan, J, de Jong, PT, Storimans, CW, van Schooneveld, MJ, Oosterhuis, JA, Gschwendter, A, Dichgans, M, Kotschet, KE, Hodgkinson, S, Hardy, TA, Delatycki, MB, Haij-Ali, RA, Kothari, PH, Nelson, SF, Frants, RR, Baloh, RW, Ferrari, MD & Atkinson, JP 2007, 'C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.', Nature Genetics, vol. 39, no. 9, pp. 1068-1070. <http://www.nature.com/ng/journal/v39/n9/abs/ng2082.html>

TY - JOUR

T1 - C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

AU - Richards, A.

AU - van den Maagdenberg, A.M.

AU - Jen, J.C.

AU - Kavanagh, D.

AU - Bertram, P

AU - Spitzer, D.

AU - Liszewski, M.K.

AU - Barilla-Labarca, M.L.

AU - Terwindt, GM

AU - Kasai, Y.

AU - McLellan, M.

AU - Grand, M.G.

AU - Vanmolkot, KRJ

AU - de Vries, B.

AU - Wan, J.

AU - Kane, M.

AU - Mamsa, H.

AU - Schafer, R.

AU - Stam, A.H.

AU - Haan, J

AU - de Jong, PT.

AU - Storimans, C.W.

AU - van Schooneveld, M.J.

AU - Oosterhuis, J.A.

AU - Gschwendter, A.

AU - Dichgans, M.

AU - Kotschet, K.E.

AU - Hodgkinson, S.

AU - Hardy, T.A.

AU - Delatycki, M.B.

AU - Haij-Ali, R.A.

AU - Kothari, P.H.

AU - Nelson, S.F.

AU - Frants, R.R.

AU - Baloh, R.W.

AU - Ferrari, M.D.

AU - Atkinson, J.P.

PY - 2007

Y1 - 2007

N2 - 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.

AB - 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.

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

M3 - Article

SN - 1061-4036

VL - 39

SP - 1068

EP - 1070

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

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

Abstract

Keywords

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