Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier (Q46990502)

27 December 2017

title

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier (English)

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27 December 2017

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27 December 2017

Xandra O. Breakefield

Xandra O Breakefield

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27 December 2017

Laurie Ozelius

Laurie J Ozelius

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27 December 2017

Phyllis I Hanson

Phyllis I Hanson

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27 December 2017

Teresa V Naismith

Teresa V Naismith

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27 December 2017

Heather Boston

Heather E Boston

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27 December 2017

author name string

Norman Kock

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27 December 2017

publication date

14 March 2006

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27 December 2017

published in

Human Molecular Genetics

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27 December 2017

volume

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27 December 2017

issue

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27 December 2017

page(s)

1355-1364

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27 December 2017

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Candidate gene studies in focal dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Mutations in DYT1: extension of the phenotypic and mutational spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Evolutionary history and higher order classification of AAA+ ATPases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

AAA proteins. Lords of the ring

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

AAA+ superfamily ATPases: common structure--diverse function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

AAA+ proteins: have engine, will work

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Chaperoned protein disaggregation--the ClpB ring uses its central channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

The structure of ClpB: a molecular chaperone that rescues proteins from an aggregated state

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

TorsinA in the nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

The early onset dystonia protein torsinA interacts with kinesin light chain 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

TorsinB--perinuclear location and association with torsinA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Biochemical characterization of torsinB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Developmental expression of rat torsinA transcript and protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

The DYT1 phenotype and guidelines for diagnostic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Brainstem pathology in DYT1 primary torsion dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Transgenic mouse model of early-onset DYT1 dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Sculpting the proteome with AAA(+) proteases and disassembly machines.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Thermotolerance requires refolding of aggregated proteins by substrate translocation through the central pore of ClpB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Formation of stacked ER cisternae by low affinity protein interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Production of high-titer helper-free retroviruses by transient transfection

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

Distinct roles for the AAA ATPases NSF and p97 in the secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL055

21 January 2018

Identifiers

DOI

10.1093/HMG/DDL055

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27 December 2017

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27 December 2017