Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.

Neurobiology of disease - 1 Feb 2017

Xiao Jianfeng, Vemula Satya R, Xue Yi, Khan Mohammad M, Carlisle Francesca A, Waite Adrian J, Blake Derek J, Dragatsis Ioannis, Zhao Yu, LeDoux Mark S

Abstract excerpt

Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A "major" ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a "brain-specific" protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_001099400.1), are reportedly localized in post- and pre-synaptic membrane fractions, respectively. Moreover, deficiency of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anxiety
Share to Dystonic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exploratory Behavior

Share to Mice, 129 Strain

Share to Motor Activity

Share to Protein Isoforms

Share to Sarcoglycans

Source

Open in PubMed Open full text

Identifiers

PMID: 27890709
DOI: 10.1016/j.nbd.2016.11.003
PMCID: PMC5283163

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.PMID 27890709Read ↗

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?Semantic proximity Read ↗

A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathwaySemantic proximity Read ↗

Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.Semantic proximity Read ↗

SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinASemantic proximity Read ↗

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.Semantic proximity Read ↗

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.Semantic proximity Read ↗

Mutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice.Semantic proximity Read ↗

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.Semantic proximity Read ↗

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.Semantic proximity Read ↗

Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.Semantic proximity Read ↗

A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability.Semantic proximity Read ↗

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.