Article
A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.
Disease models & mechanisms - 1 Mar 2013
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
Abstract excerpt
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 distal axon of corticospinal motor neurons, which degenerate in HSP patients. Animal and cell models have identified...
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