Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Notch1 gain of function in skeletal muscles leads to neuromuscular junction formation defects and neonatal death.

ABSTRACT:

SUBMITTER: Yang HH

PROVIDER: S-EPMC6489730 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Notch1 gain of function in skeletal muscles leads to neuromuscular junction formation defects and neonatal death.

Yang Hai-Hong HH Liu Feng-Jiao FJ Wu Yan Y Zhu Qian Q Cheng Juan-Xian JX Fan Ming M Wu Hai-Tao HT

CNS neuroscience & therapeutics 20180117 5

PMID: 29345116

Similar Datasets

LSMEM2, localized at the neuromuscular junction, modulates mitochondrial integration in skeletal muscles

Project description:In addition to the canonical metabolism-regulating function, AMP-activated protein kinase (AMPK) has non-canonical functions, in which AMPK spatiotemporally phosphorylates specific sets of substrates. Recently, we identified LSMEM2, a novel substrate of AMPK in the heart. LSMEM2 is a membrane protein localized at the intercalated disc (ICD), whose function is currently under investigation. Interestingly, LSMEM2 is also expressed in the skeletal muscles. As skeletal muscles lack a homophilic intercellular junction corresponding to the ICD in the heart, predicting the role of LSMEM2 in skeletal muscles is difficult. In this study, we identified that LSMEM2 is expressed in skeletal muscles, specifically at the neuromuscular junction (NMJ). LSMEM2-knockout mice showed no histological abnormalities, suggesting that LSMEM2 is not essential for skeletal muscle development. The overexpression of full-length wild-type or C-del mutant of LSMEM2 led to the tubular aggregate formation with functional abnormality in male mice. RNA sequence analysis revealed that the genesets of mitochondrial oxidative phosphorylation and vesicle-mediated transport are enriched in LSMEM2 overexpression. Furthermore, histological analysis demonstrated the accumulation of swollen subsarcolemmal mitochondria in LSMEM2-overexpressing skeletal muscles. The study findings suggest that LSMEM2 may play a role in the pathogenesis of skeletal muscle diseases.

2025-06-25 | GSE285026 | GEO

Acetylcholine receptor-β inhibition by interleukin-6 in skeletal muscles contributes to modulating neuromuscular junction during aging.

Project description: Not available

| S-EPMC11468496 | biostudies-literature

Skeletal muscle mTORC1 regulates neuromuscular junction stability.

Project description: Not available

| S-EPMC7015238 | biostudies-literature

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.

Project description: Not available

| S-EPMC2742401 | biostudies-literature

Neuromuscular Junction

Project description:NMJ Junction various time points normal C57BL10 LCM mRNA Keywords: other