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ER stress as a sentinel mechanism for ER Ca homeostasis.
Cell Calcium
December 2024
Department of Cell Biology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton T6G2H7, Alberta, Canada. Electronic address:
Endoplasmic reticulum (ER) stress is triggered upon the interference with oxidative protein folding that aims to produce fully folded, disulfide-bonded and glycosylated proteins, which are then competent to exit the ER. Many of the enzymes catalyzing this process require the binding of Ca ions, including the chaperones BiP/GRP78, calnexin and calreticulin. The induction of ER stress with a variety of drugs interferes with chaperone Ca binding, increases cytosolic Cathrough the opening of ER Ca channels, and activates store-operated Ca entry (SOCE).
View Article and Find Full Text PDFA 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.
BMC Neurol
October 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Background: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy (LAMA2-MD) has a similar clinical phenotype, which ranges from severe, early-onset congenital muscular dystrophy type 1A (MDC1A) to milder forms presenting as childhood- or adult-onset limb-girdle type muscular dystrophy. The first 1.
View Article and Find Full Text PDFPhenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Neurogenetics
October 2024
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, 560029, India.
Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.68 to 2.5/100,000, contributing to significant morbidity and mortality.
View Article and Find Full Text PDFER stress and ERO1: Potential therapeutic targets for inherited myopathies.
Cell Rep Med
March 2024
Department of Pharmacological and Pharmaceutical Sciences, University of Houston College of Pharmacy, Houston, TX 77204, USA. Electronic address:
Selenoprotein N-related myopathy (SEPN1-RM) is a genetic disease that causes muscle weakness and respiratory failure. Germani et al. demonstrate that diaphragm weakness in SEPN1-RM is prevented by the inhibition of ER stress or ERO1 oxidoreductase regulated by transcription factor CHOP.
View Article and Find Full Text PDFSEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
Cell Rep Med
March 2024
Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy; Department of Biomolecular Sciences, University of Urbino Carlo Bo, Urbino, Italy. Electronic address:
Article Synopsis
- * ERO1A depletion in SEPN1 knockout cells enhances ER redox balance, improves mitochondrial function, and combats diaphragmatic weakness in mice, while ERO1A knockout shows beneficial effects on ER stress and MAM functionality.
- * ERO1A overexpression is observed in muscle biopsies from SEPN1-RM patients, and the ER stress inhibitor tauroursodeoxycholic acid (TUDCA) improves bio
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