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

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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Limited 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597030/
https://www.ncbi.nlm.nih.gov/pubmed/23264559
http://dx.doi.org/10.1242/dmm.010884
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