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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The Company of Biologists Limited 2013
Gaiak:
Research Article
Sarrera elektronikoa: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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