A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.

Distal hereditary motor neuronopathies (dHMNs) are a clinically and genetically heterogeneous group of disorders in which motor neurons selectively undergo age-dependant degeneration. Mutations in the small heat-shock protein HSPB1 (HSP27) are responsible for one form of dHMN. In this study, we have...

詳細記述

書誌詳細
主要な著者: Ackerley, S, James, P, Kalli, A, French, S, Davies, K, Talbot, K
フォーマット: Journal article
言語:English
出版事項: 2006