Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments
Source
Acta neuropathologica - ISSN 0001-6322-126:1 (2013) p. 93-108
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance
Source
The American journal of human genetics - ISSN 0002-9297-92:6 (2013) p. 955-964
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients
Source
Neuromuscular disorders - ISSN 0960-8966-22:8 (2012) p. 699-711
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy
Source
The journal of neuroscience - ISSN 0270-6474-31:43 (2011) p. 15320-15328
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1induced Charcot-Marie-Tooth disease
Source
Nature medicine - ISSN 1078-8956-17:8 (2011) p. 968-974