Article
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
Human molecular genetics - 1 Sept 2017
Kalmar Bernadett, Innes Amy, Wanisch Klaus, Kolaszynska Alicia Koyen, Pandraud Amelie, Kelly Gavin, Abramov Andrey Y, Reilly Mary M, Schiavo Giampietro, Greensmith Linda
Abstract excerpt
Mutations in the small heat shock protein Hsp27, encoded by the HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor neuropathy (dHMN). Protein aggregation and axonal transport deficits have been implicated in the disease. In this study, we conducted analysis of bidirectional movements of mitochondria in primary motor neuron axons expressing wild type and...
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