SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA
about
CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent processTRIM32 is an E3 ubiquitin ligase for dysbindinThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyA mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosisDominant β-catenin mutations cause intellectual disability with recognizable syndromic features.Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.Chemical enhancement of torsinA function in cell and animal models of torsion dystonia.SGCE mutations cause psychiatric disorders: clinical and genetic characterizationBiochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AThe early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia.4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunctionSGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?Genetic and clinical features of primary torsion dystonia.Torsin A Localization in the Mouse Cerebellar Synaptic Circuitry.Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiationSarcoglycanopathies: molecular pathogenesis and therapeutic prospectsSGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-outA Model-Based Joint Identification of Differentially Expressed Genes and Phenotype-Associated Genes.Aberrant Purkinje cell activity is the cause of dystonia in a shRNA-based mouse model of Rapid Onset Dystonia-Parkinsonism.Psychiatric disorders, myoclonus dystonia and SGCE: an international studyRecent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.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.The genetics of dystonias.Glial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous systemThe neurobiology of the dystrophin-associated glycoprotein complex.Striatal dopaminergic dysfunction at rest and during task performance in writer's cramp.Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.Primary dystonia: molecules and mechanisms.Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansionMilestones in dystonia.The genetics of dystonia: new twists in an old tale.Emerging common molecular pathways for primary dystonia.Ryanodine receptors are part of the myospryn complex in cardiac muscle.Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.
P2860
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P2860
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA
description
2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2007
@ast
im Februar 2007 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2007/02/01)
@sk
vědecký článek publikovaný v roce 2007
@cs
wetenschappelijk artikel (gepubliceerd op 2007/02/01)
@nl
наукова стаття, опублікована в лютому 2007
@uk
مقالة علمية (نشرت في فبراير 2007)
@ar
name
SGCE missense mutations that c ...... by ubiquitination and torsinA
@ast
SGCE missense mutations that c ...... by ubiquitination and torsinA
@en
SGCE missense mutations that c ...... by ubiquitination and torsinA
@nl
type
label
SGCE missense mutations that c ...... by ubiquitination and torsinA
@ast
SGCE missense mutations that c ...... by ubiquitination and torsinA
@en
SGCE missense mutations that c ...... by ubiquitination and torsinA
@nl
prefLabel
SGCE missense mutations that c ...... by ubiquitination and torsinA
@ast
SGCE missense mutations that c ...... by ubiquitination and torsinA
@en
SGCE missense mutations that c ...... by ubiquitination and torsinA
@nl
P2093
P921
P3181
P356
P1476
SGCE missense mutations that c ...... by ubiquitination and torsinA
@en
P2093
Adrian Waite
Christopher T. Esapa
Derek J. Blake
Matthew A. Benson
Matthew Locke
Michaela Kraus
Philip W. Beesley
R. A. Jeffrey McIlhinney
Roy V. Sillitoe
P304
P3181
P356
10.1093/HMG/DDL472
P577
2007-02-01T00:00:00Z