TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

被引：1237

作者：

Kabashi, Edor ^{[1
,2
]}

Valdmanis, Paul N. ^{[1
,2
]}

Dion, Patrick ^{[1
,2
]}

Spiegelman, Dan ^{[1
,2
]}

McConkey, Brendan J. ^{[3
]}

Velde, Christine Vande ^{[1
,2
]}

Bouchard, Jean-Pierre ^{[4
]}

Lacomblez, Lucette ^{[5
]}

Pochigaeva, Ksenia ^{[5
]}

Salachas, Francois ^{[5
]}

Pradat, Pierre-Francois ^{[5
]}

Camu, William ^{[6
]}

Meininger, Vincent ^{[5
]}

Dupre, Nicolas ^{[1
,2
,4
]}

Rouleau, Guy A. ^{[1
,2
]}

机构：

[1] Ctr Hosp Univ Montreal, Ctr Excellence Neurom, Montreal, PQ H2L 4M1, Canada

[2] Univ Montreal, Dept Med, Montreal, PQ H2L 4M1, Canada

[3] Univ Waterloo, Dept Biol, Waterloo, ON N2L 3G1, Canada

[4] Univ Laval, Fac Med, Ctr Hosp Affilie Univ Quebec, Hop Enfants Jesus, Quebec City, PQ G1J 1Z4, Canada

[5] Hop La Pitie Salpetriere, Div Paul Castaigne, Federat Malad Syst Nerveux, F-75651 Paris, France

[6] Inst Biol, Unite Neurol Comportementale & Degenerat, F-34967 Montpellier, France

来源：

NATURE GENETICS | 2008年 / 40卷 / 05期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1038/ng.132

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals-six from individuals with sporadic ALS ( SALS) and three from those with familial ALS ( FALS)-and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.

引用

页码：572 / 574

页数：3

共 15 条

[1] TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease
Amador-Ortiz, Catalina
Lin, Wen-Lang
Ahmed, Zeshan
Personett, David
Davies, Peter
Dara, Ranjan
Graff-Radford, Neill R.
Hutton, Michael L.
Dickson, Dennis W.
[J]. ANNALS OF NEUROLOGY, 2007, 61 (05) : 435 - 445
[2] TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Arai, Tetsuaki
Hasegawa, Masato
Akiyama, Haruhiko
Ikeda, Kenji
Nonaka, Takashi
Mori, Hiroshi
Mann, David
Tsuchiya, Kuniaki
Yoshida, Marl
Hashizume, Yoshio
Oda, Tatsuro
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2006, 351 (03) : 602 - 611
[3] TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail - An important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing
Buratti, E
Brindisi, A
Giombi, M
Tisminetzky, S
Ayala, YM
Baralle, FE
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (45) : 37572 - 37584
[4] Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease
Filimonenko, Maria
Stuffers, Susanne
Raiborg, Camilla
Yamamoto, Ai
Malerod, Lene
Fisher, Elizabeth M. C.
Isaacs, Adrian
Brech, Andreas
Stenmark, Harald
Simonsen, Anne
[J]. JOURNAL OF CELL BIOLOGY, 2007, 179 (03) : 485 - 500
[5] TDP-43: a novel neurodegenerative proteinopathy
Forman, Mark S.
Trojanowski, John Q.
Lee, Virginia M-Y
[J]. CURRENT OPINION IN NEUROBIOLOGY, 2007, 17 (05) : 548 - 555
[6] FG-rich repeats of nuclear pore proteins form a three-dimensional meshwork with hydrogel-like properties
Frey, Steffen
Richter, Ralf P.
Goerlich, Dirk
[J]. SCIENCE, 2006, 314 (5800) : 815 - 817
[7] GIJSELINCK I, IN PRESS NEUROBIOL A
[8] ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
Greenway, MJ
Andersen, PM
Russ, C
Ennis, S
Cashman, S
Donaghy, C
Patterson, V
Swingler, R
Kieran, D
Prehn, J
Morrison, KE
Green, A
Acharya, KR
Brown, RH
Hardiman, O
[J]. NATURE GENETICS, 2006, 38 (04) : 411 - 413
[9] CLONING AND CHARACTERIZATION OF A NOVEL CELLULAR PROTEIN, TDP-43, THAT BINDS TO HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 TAR DNA-SEQUENCE MOTIFS
IGNATIUS, SH
WU, F
HARRICH, D
GARCIAMARTINEZ, LF
GAYNOR, RB
[J]. JOURNAL OF VIROLOGY, 1995, 69 (06) : 3584 - 3596
[10] A century-old debate on protein aggregation and neurodegeneration enters the clinic
Lansbury, Peter T.
Lashuel, Hilal A.
[J]. NATURE, 2006, 443 (7113) : 774 - 779

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