TorsinA: Movement at many levels

被引：103

作者：

Breakefield, XO ^{[1
]}

Kamm, C

Hanson, PI

机构：

[1] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Neurol,Mol Neurogenet Unit, Boston, MA 02129 USA

[2] Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA

来源：

NEURON | 2001年 / 31卷 / 01期

关键词：

D O I：

10.1016/S0896-6273(01)00350-6

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

TorsinA is the causative protein in the human neurologic disease early onset torsin dystonia, a movement disorder involving dysfunction in the basal ganglia without apparent neurodegeneration. Most cases result from a dominantly acting three-base pair deletion in the TOR1A gene causing loss of a glutamic acid near the carboxyl terminus of torsinA. Torsins are members of the AAA+ superfamily of ATPases and are present in all multicellular organisms. Initial studies suggest that torsinA is an ER protein involved in chaperone functions and/or membrane movement.

引用

页码：9 / 12

页数：4

共 22 条

[1] Traffic jam: A compendium of human diseases that affect intracellular transport processes
Aridor, M
Hannan, LA
[J]. TRAFFIC, 2000, 1 (11) : 836 - 851
[2] The dynein heavy chain: structure, mechanics and evolution
Asai, DJ
Koonce, MF
[J]. TRENDS IN CELL BIOLOGY, 2001, 11 (05) : 196 - 202
[3] Augood SJ, 1999, ANN NEUROL, V46, P761, DOI 10.1002/1531-8249(199911)46:5<761::AID-ANA12>3.0.CO
[4] 2-Z
[5] Mutations in ooc-5 and ooc-3 disrupt oocyte formation and the reestablishment of asymmetric PAR protein localization in two-cell Caenorhabditis elegans embryos
Basham, SE
Rose, LS
[J]. DEVELOPMENTAL BIOLOGY, 1999, 215 (02) : 253 - 263
[6] The DYT1 phenotype and guidelines for diagnostic testing
Bressman, SB
Sabatti, C
Raymond, D
de Leon, D
Klein, C
Kramer, PL
Brin, MF
Fahn, S
Breakefield, X
Ozelius, LJ
Risch, NJ
[J]. NEUROLOGY, 2000, 54 (09) : 1746 - 1752
[7] Structure and conformational changes in NSF and its membrane receptor complexes visualized by quick-freeze/deep-etch electron microscopy
Hanson, PI
Roth, R
Morisaki, H
Jahn, R
Heuser, JE
[J]. CELL, 1997, 90 (03) : 523 - 535
[8] HEDREEN JC, 1988, ADV NEUROL, V50, P23
[9] Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
Hewett, J
Gonzalez-Agosti, C
Slater, D
Ziefer, P
Li, S
Bergeron, D
Jacoby, DJ
Ozelius, LJ
Ramesh, V
Breakefield, XO
[J]. HUMAN MOLECULAR GENETICS, 2000, 9 (09) : 1403 - 1413
[10] A MITOCHONDRIAL-DNA MUTATION AT NUCLEOTIDE PAIR-14459 OF THE NADH DEHYDROGENASE SUBUNIT-6 GENE ASSOCIATED WITH MATERNALLY INHERITED LEBER HEREDITARY OPTIC NEUROPATHY AND DYSTONIA
JUN, AS
BROWN, MD
WALLACE, DC
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (13) : 6206 - 6210

← 1 2 3 →