In Dnm2 R465W/+ mice, a model for centronuclear myopathy (CNM), depletion of Sh3kbp1 expression aggravates CNM-related atrophic phenotypes and impaired autophagic flux in mutant skeletal muscle fiber.

More than half of patients with ischemic stroke experience futile reperfusion, increasing the risk of death and disabilities despite a successful recanalization. The reason behind this is debated, and ...

Immune-mediated necrotizing myopathy (IMNM) is a type of inflammatory myopathy. Most patients with IMNM produce anti-3-hydroxy-3-methylglutaryl coenzyme A reductase or anti-signal-recognition particle ...

Idiopathic inflammatory myopathy (IIM) is a heterogeneous group of autoimmune diseases with various clinical manifestations, treatment responses, and prognoses. According to the clinical ...

Idiopathic inflammatory myopathies (IIM) are a group of systemic autoimmune inflammatory disorders characterised by symmetrical skeletal muscle weakness and accelerated fatigue also in the early ...

A number of proteins regulating this process are mutated in human diseases. We focus on centronuclear myopathy due to mutations in the large GTPase dynamin 2 (DNM2), the first protein shown to ...