A5108321587- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Telomeres, Telomerase, and Senescence
- Cardiomyopathy and Myosin Studies
- Mitochondrial Function and Pathology
- Endoplasmic Reticulum Stress and Disease
- Biotin and Related Studies
- Genetic Neurodegenerative Diseases
- Adipose Tissue and Metabolism
- Autophagy in Disease and Therapy
Veneto Institute of Molecular Medicine
2024-2025
University of Padua
2024-2025
Selenoprotein N (SEPN1) is a protein of the endoplasmic reticulum (ER) whose inherited defects originate SEPN1-related myopathy (SEPN1-RM). Here, we identify an interaction between SEPN1 and ER-stress-induced oxidoreductase ERO1A. ERO1A, both enriched in mitochondria-associated membranes (MAMs), are involved redox regulation proteins. ERO1A depletion knockout cells restores ER redox, re-equilibrates short-range MAMs, rescues mitochondrial bioenergetics. mouse background loss blunts stress...
Myofiber size regulation is critical in health, disease, and aging. MuSK (muscle-specific kinase) a BMP (bone morphogenetic protein) co-receptor that promotes shapes signaling. expressed at all neuromuscular junctions also present extrasynaptically the mouse soleus, whose predominantly oxidative fiber composition akin to of human muscle. To investigate role MuSK-BMP pathway vivo, we generated mice lacking BMP-binding Ig3 domain. These ∆Ig3-MuSK are viable fertile with innervation levels...
Skeletal muscle fibers are classified as glycolytic or oxidative, with differing susceptibilities to wasting. However, the intracellular signaling pathways regulating fiber-specific trophism remain unclear because of a lack experimental models measuring protein synthesis. We developed mouse model overexpressing mutated transfer RNA synthetase in fibers, enabling specific labeling using an artificial methionine substitute, which can be revealed through click chemistry. This that denervation...
Duchenne muscular dystrophy (DMD) is one of the most frequent and severe childhood muscle diseases. Its pathophysiology multifaceted still incompletely understood, but we others have previously shown that oxidative stress plays an important role. In particular, demonstrated inhibition mitochondrial monoamine oxidases could improve some functional biohumoral markers pathology. present study report use dystrophic mdx mice to evaluate efficacy a dual oxidase B (MAO-B)/semicarbazide-sensitive...