A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

Hereditary spastic paraplegia (HSP) leads to progressive gait disturbances with lower limb muscle weakness and spasticity. Mutations in SPAST are a major cause of adult-onset, autosomal-dominant HSP. Spastin, the protein encoded by SPAST, is a microtubule-severing protein that is enriched in the dis...

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Detalhes bibliográficos
Main Authors: Abrahamsen, Greger, Fan, Yongjun, Matigian, Nicholas, Wali, Gautam, Bellette, Bernadette, Sutharsan, Ratneswary, Raju, Jyothy, Wood, Stephen A., Veivers, David, Sue, Carolyn M., Mackay-Sim, Alan
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Limited 2013
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3597030/
https://ncbi.nlm.nih.gov/pubmed/23264559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.010884
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