EP 3: Journal club: The Spectrum of Small Heat Shock Protein B8 (HSPB8) - Associated... скачать в хорошем качестве

EP 3: Journal club: The Spectrum of Small Heat Shock Protein B8 (HSPB8) - Associated...

How can a small heat shock protein cause big problems in muscle and nerve cells? This episode explores HSPB8, a key player in chaperone-assisted selective autophagy (CASA), which helps clear misfolded and damaged proteins. What neuromuscular disorders are linked to HSPB8 mutations? How do specific variants — from missense to frameshift — give rise to distal hereditary motor neuropathy (dHMN), Charcot–Marie–Tooth disease type 2L (CMT2L), and myopathy with rimmed vacuoles? We break down the toxic gain-of-function mechanisms driving disease and highlight emerging therapeutic strategies, from small molecules to RNA-based approaches. Based on the latest review by Professor Hebatallah R. Rashed, Dr Samir R. Nath, and Professor Margherita Milone in the International Journal of Molecular Sciences, this episode brings you cutting-edge insights into HSPB8 biology and pathogenesis.