Torsin A

R. H. Walker

doi:10.1016/B978-0-12-374105-9.00142-8

Torsin A

R. H. Walker

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

Mutations of the DYT1 gene cause a major form of inherited, generalized dystonia. From in vitro and in vivo studies in animal models, the affected protein, torsinA, appears to have a number of functions that may potentially be of significance for the pathophysiology of dystonia in humans. However, its precise function and dysfunction in dystonia remain to be fully elucidated.

Original language	English
Title of host publication	Encyclopedia of Movement Disorders, Three-Volume Set
Publisher	Elsevier
Pages	V3-243-V3-247
ISBN (Electronic)	9780123741059
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00142-8
State	Published - 1 Jan 2010

Keywords

Dystonia
DYT1
Inclusion bodies
TorsinA

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10.1016/B978-0-12-374105-9.00142-8

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title = "Torsin A",

abstract = "Mutations of the DYT1 gene cause a major form of inherited, generalized dystonia. From in vitro and in vivo studies in animal models, the affected protein, torsinA, appears to have a number of functions that may potentially be of significance for the pathophysiology of dystonia in humans. However, its precise function and dysfunction in dystonia remain to be fully elucidated.",

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AB - Mutations of the DYT1 gene cause a major form of inherited, generalized dystonia. From in vitro and in vivo studies in animal models, the affected protein, torsinA, appears to have a number of functions that may potentially be of significance for the pathophysiology of dystonia in humans. However, its precise function and dysfunction in dystonia remain to be fully elucidated.

KW - Dystonia

KW - DYT1

KW - Inclusion bodies

KW - TorsinA

UR - https://www.scopus.com/pages/publications/85184542927

U2 - 10.1016/B978-0-12-374105-9.00142-8

DO - 10.1016/B978-0-12-374105-9.00142-8

M3 - Chapter

AN - SCOPUS:85184542927

SP - V3-243-V3-247

BT - Encyclopedia of Movement Disorders, Three-Volume Set

PB - Elsevier

ER -

Torsin A

Abstract

Keywords

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