(Q53413310)

English

A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.

scientific article published on 15 September 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

1 reference

based on heuristic

inferred from title

myoclonic dystonia

1 reference

based on heuristic

inferred from title

Maria Cristina De Rosa

2

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

Andrea Brancaccio

3

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

author name string

Adrian Waite

1

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

Derek J Blake

4

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

publication date

15 September 2011

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

32

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

11

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

1246-1258

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

Dystroglycan is selectively cleaved at the parenchymal basement membrane at sites of leukocyte extravasation in experimental autoimmune encephalomyelitis

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Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype

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Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene

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Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation

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Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

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Function and genetics of dystrophin and dystrophin-related proteins in muscle

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The structure of the N-terminal region of murine skeletal muscle alpha-dystroglycan discloses a modular architecture.

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Functional diversity of dystroglycan

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The pathophysiological basis of dystonias.

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Protein native-state stabilization by placing aromatic side chains in N-glycosylated reverse turns

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Cadherin-like domains in alpha-dystroglycan, alpha/epsilon-sarcoglycan and yeast and bacterial proteins.

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Phenotypic features of myoclonus-dystonia in three kindreds

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The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane.

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Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models.

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Setting the standards: quality control in the secretory pathway

1 reference

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

1 reference

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21 January 2018

epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D

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21 January 2018

Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family

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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

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Constitutive, agonist-accelerated, recycling and lysosomal degradation of GABA(B) receptors in cortical neurons

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Myoclonus-dystonia: significance of large SGCE deletions

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Sarcoglycans in muscular dystrophy

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Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations

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21 January 2018

No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations

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21 January 2018

Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

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21 January 2018

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

1 reference

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21 January 2018

Molecular recognition by LARGE is essential for expression of functional dystroglycan

1 reference

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21 January 2018

Myoclonus-dystonia: an update

1 reference

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21 January 2018

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

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21 January 2018

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

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21 January 2018

A syntaxin 1, Galpha(o), and N-type calcium channel complex at a presynaptic nerve terminal: analysis by quantitative immunocolocalization.

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21 January 2018

Anomalous dystroglycan in carcinoma cell lines.

1 reference

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Assessment of protein models with three-dimensional profiles

1 reference

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Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

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Beta-dystroglycan as a target for MMP-9, in response to enhanced neuronal activity.

1 reference

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Stereochemical quality of protein structure coordinates

1 reference

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L273S missense substitution in human lysosomal acid lipase creates a new N-glycosylation site.

1 reference

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21 January 2018

Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review

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Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines

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21 January 2018

Trafficking and function of the tetraspanin CD63.

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Processing and secretion of the N-terminal domain of alpha-dystroglycan in cell culture media

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Comparative protein modelling by satisfaction of spatial restraints

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Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects

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Genetic heterogeneity in ten families with myoclonus-dystonia.

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Misfolding diverts CFTR from recycling to degradation: quality control at early endosomes

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Proteolytic enzymes and altered glycosylation modulate dystroglycan function in carcinoma cells.

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Protein homology detection by HMM-HMM comparison

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Effect of lysosomotropic amines on the secretory pathway and on the recycling of the asialoglycoprotein receptor in human hepatoma cells

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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

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Gain-of-glycosylation mutations

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The neurobiology of the dystrophin-associated glycoprotein complex.

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Processing of beta-dystroglycan by matrix metalloproteinase disrupts the link between the extracellular matrix and cell membrane via the dystroglycan complex.

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Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice

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Ectodomain shedding of the receptor for advanced glycation end products: a novel therapeutic target for Alzheimer's disease

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I-TASSER server for protein 3D structure prediction

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Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

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Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

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An ischemic beta-dystroglycan (betaDG) degradation product: correlation with irreversible injury in adult rabbit cardiomyocytes

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inferred from DOI database lookup

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1 reference

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based on heuristic

inferred from DOI database lookup

A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy

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Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ɛ-sarcoglycan mutations

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Identifiers

10.1002/HUMU.21561

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/21796726

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