"Disease-causing mutations in the small heat shock protein Hsp27 alter " by Anthea Rote
Charcot Marie Tooth disease (CMT) and distal hereditary motor neuropathy (dHMN) are two heterogeneous and clinically overlapping diseases of the peripheral nervous system. Pathogenic mutations in various proteins including the small heat shock protein 27 (Hsp27, HSPB1) are associated with CMT and dHMN; however the molecular mechanisms underlying disease progression are not understood. Hsp27 is a ubiquitously expressed and highly conserved molecular chaperone that is involved in cytoprotective functions including protein homeostasis (proteostasis), redox modulation, inhibition of apoptosis, sta...