Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. (Q35554495)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711988%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

title

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation (English)

1 reference

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17 November 2019

2

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17 November 2019

1

Rose E Goodchild

1 reference

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17 November 2019

language of work or name

English

0 references

publication date

7 January 2004

1 reference

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17 November 2019

number of pages

6

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Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

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17 November 2019

volume

101

1 reference

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17 November 2019

issue

3

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17 November 2019

page(s)

847-852

1 reference

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Nuclear membrane proteins with potential disease links found by subtractive proteomics

17 November 2019

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1 reference

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12 July 2018

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

12 July 2018

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Functional ATPase activity of p97/valosin-containing protein (VCP) is required for the quality control of endoplasmic reticulum in neuronally differentiated mammalian PC12 cells

12 July 2018

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Life at the edge: the nuclear envelope and human disease

12 July 2018

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

12 July 2018

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Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues

12 July 2018

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Inner nuclear membrane proteins: functions and targeting

12 July 2018

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AAA+ superfamily ATPases: common structure--diverse function

12 July 2018

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The inner nuclear membrane

12 July 2018

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12 July 2018

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

12 July 2018

1 reference

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

12 July 2018

1 reference

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Microtubule disassembly by ATP-dependent oligomerization of the AAA enzyme katanin

12 July 2018

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AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes

12 July 2018

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Doxycycline control of prion protein transgene expression modulates prion disease in mice

12 July 2018

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The AAA team: related ATPases with diverse functions

12 July 2018

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De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

12 July 2018

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The Vps4p AAA ATPase regulates membrane association of a Vps protein complex required for normal endosome function

12 July 2018

1 reference

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

12 July 2018

1 reference

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The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria

12 July 2018

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N-ethylmaleimide-sensitive fusion protein: a trimeric ATPase whose hydrolysis of ATP is required for membrane fusion

12 July 2018

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Co-regulation of two gene activities by tetracycline via a bidirectional promoter.

12 July 2018

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Annulate lamellae: a last frontier in cellular organelles

12 July 2018

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Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

12 July 2018

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

26 September 2018

1 reference

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The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily

26 September 2018

1 reference

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Mutations in ooc-5 and ooc-3 disrupt oocyte formation and the reestablishment of asymmetric PAR protein localization in two-cell Caenorhabditis elegans embryos

26 September 2018

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The pathophysiology of primary dystonia.

26 September 2018

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Concurrent chaperone and protease activities of ClpAP and the requirement for the N-terminal ClpA ATP binding site for chaperone activity

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14711988

12 December 2020

inferred from PubMed ID database lookup

ClpA and ClpP remain associated during multiple rounds of ATP-dependent protein degradation by ClpAP protease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14711988

12 December 2020

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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14711988

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.0304375101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711988%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711988%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference