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As a consequence of impaired glucose or fatty acid metabolism, bioenergetic stress in skeletal muscles may trigger myopathy and rhabdomyolysis. Genetic mutations causing loss of function of the LPIN1 gene frequently lead to severe rhabdomyolysis bouts in children, though the metabolic alterations an...
2019-01-07 | MTBLS750 | MetaboLights
“Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism.”
ORGANISM(S): Mus musculus (Mouse) 
2019-05-20 | PXD013008 | Pride
Znhit1-deficiency caused sarcoplasmic reticulum originated vacuolar cardiomyopathy
The functionality/integrity of sarcoplasmic reticulum was compared between normal vs. myopathic woody breast tissues in Gallus gallus. Shotgun MS profiling of protein expression revealed an upregulation of calcium transport proteins and a downregulation of proteins responsible for calcium release. ...
ORGANISM(S): Gallus gallus (Chicken) 
2022-05-19 | PXD031445 | Pride
DIAPH1-MFN2 interaction regulates mitochondria-sarcoplasmic reticulum contact and modulates ischemic/hypoxic stress
Cardiac sarcoplasmic reticulum (SR) plays a central role in cellular Ca homeostasis, as does endoplasmic reticulum (ER) in the nonmuscle cell. The importance of SR Ca-handling function has led to detailed understanding of Ca-release and re-uptake protein complexes, but relatively little information...
ORGANISM(S): Canis familiaris (Dog) (Canis lupus familiaris) 
2024-01-26 | PXD022455 | Pride
Congenital heart defects (CHDs) occur in 0.5–1% of live births, yet the underlying genetic etiology remains mostly unknown. Recently, a new source of myocardial cells, namely the second heart field (SHF), was discovered in the splanchnic mesoderm. Abnormal development of the SHF leads to a spectrum ...
ORGANISM(S): Mus musculus 
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