About: SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

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About: SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA Goto Sponge NotDistinct Permalink

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scientific journal article

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rdf:type	Item
description	artículu científicu espublizáu en 2007 (ast) vědecký článek publikovaný v roce 2007 (cs) наукова стаття, опублікована в лютому 2007 (uk) 2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած (hyw) 2007 թվականի փետրվարին հրատարակված գիտական հոդված (hy) مقالة علمية (نشرت في فبراير 2007) (ar) vedecký článok (publikovaný 2007/02/01) (sk) article scientifique publié en 2007 (fr) wetenschappelijk artikel (gepubliceerd op 2007/02/01) (nl) scientific journal article (en) im Februar 2007 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28506171-2C36D4CA-14B7-4553-A92C-190A71AE0F9A
publication date	2007-02-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q28506171-2493D42A-10CD-4A08-BCCC-7A576781840A wds:Q28506171-43FE3E9F-C0AF-4661-8C83-70E1F50BF266 wds:Q28506171-4E2704CE-AF76-4DC3-AB89-A904D86656F8 wds:Q28506171-722BB62A-E7FB-4D6D-B50C-FE9FA5A82125 wds:Q28506171-76604C9D-F80C-48BA-9790-8699FCC4932C wds:Q28506171-8609B6F0-9AB8-46E7-A4FF-1DC8A8DB3070 wds:Q28506171-8961743A-CAE4-418A-8060-97D5259BE2B3 wds:Q28506171-C42AE1DE-C55E-400F-B095-833BB2518D41 wds:Q28506171-D6423B79-BED8-456F-ACA3-6B2E3EA76AF1
OpenCitations bibliographic resource ID	wds:Q28506171-C6A3A9CE-C8FF-47D3-856F-20DDEA159D15
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/4027167
author name string	Matthew Locke Christopher T. Esapa Derek J. Blake Matthew A. Benson Michaela Kraus Philip W. Beesley R. A. Jeffrey McIlhinney Adrian Waite Roy V. Sillitoe
OpenCitations bibliographic resource ID	4027167
rdfs:label	SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (en) SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (nl) SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (ast)
skos:prefLabel	SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (en) SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (nl) SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (ast)
name	SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (en) SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (nl) SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (ast)
title	wds:Q28506171-EA8148E1-5177-4674-837A-CD6EC28B10B3
title	SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA (en)
page(s)	wds:Q28506171-CDCE4261-751F-4700-8A55-AF93A7A83B3A
page(s)	327–342
instance of	wds:Q28506171-75C9F481-F9DF-4302-8A0A-0084FC693AB2
instance of	scholarly article
main subject	wds:Q28506171-0CB49414-E71C-448F-8E04-ADA3B716D25D wds:Q28506171-3B9A8159-D12A-474D-8D22-C110FB7EFECD wds:Q28506171-D4CE603A-5984-4BF6-89BF-332824A715A7 wds:Q28506171-EE128E81-DCC3-4DAD-AA9F-45E82C21D839
main subject	myoclonic dystonia protein ubiquitination Sarcoglycan, epsilon Torsin family 1, member A (torsin A)
PubMed ID	wds:Q28506171-1C47238E-E768-4966-A838-ABE9C250F81B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/17200151
PubMed ID	17200151
published in	wds:Q28506171-0052F938-9A24-481F-B0F5-7DC9FF3C8B9B
published in	Human Molecular Genetics
issue	wds:Q28506171-B4AA58B5-59B8-435F-88B6-1AD5AEFCA019
volume	wds:Q28506171-7B34D595-F4EC-48A4-A8CF-6C9C24F9BF70
issue	3
volume	16
DOI	wds:Q28506171-BBCAD13F-1F10-4286-8E96-23C3999ABEED
DOI	http://dx.doi.org/10.1093/HMG/DDL472
DOI	10.1093/HMG/DDL472
ResearchGate publication ID	wds:Q28506171-3ECB1D10-6402-401E-918D-36947E242D16
ResearchGate publication ID	6601031
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q28506171
is cites work of	CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells Striatal dopaminergic dysfunction at rest and during task performance in writer's cramp Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction Milestones in dystonia Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Genetic and clinical features of primary torsion dystonia The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response Primary dystonia: molecules and mechanisms. Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia TRIM32 is an E3 ubiquitin ligase for dysbindin SGCE mutations cause psychiatric disorders: clinical and genetic characterization SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to aCol2a1mutation Imprinted genes and neuroendocrine function The neurobiology of the dystrophin-associated glycoprotein complex. Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion The pathophysiological basis of dystonias. The genetics of dystonia: new twists in an old tale N-Methyl-D-aspartate (NMDA) receptor subunit NR1 forms the substrate for oligomeric assembly of the NMDA receptor The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects Glial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous system The genetics of dystonias

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