Mutant HSPB8 causes motor neuron-specific neurite degeneration

Missense mutations (K141N and K141E) in the α-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron disease phe...

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Autors principals: Irobi, Joy, Almeida-Souza, Leonardo, Asselbergh, Bob, De Winter, Vicky, Goethals, Sofie, Dierick, Ines, Krishnan, Jyothsna, Timmermans, Jean-Pierre, Robberecht, Wim, De Jonghe, Peter, Van Den Bosch, Ludo, Janssens, Sophie, Timmerman, Vincent
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2010
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2908473/
https://ncbi.nlm.nih.gov/pubmed/20538880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq234
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