Article
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
Human molecular genetics - 1 Nov 2014
Zhu Peng-Peng, Denton Kyle R, Pierson Tyler Mark, Li Xue-Jun, Blackstone Craig
Abstract excerpt
Hereditary spastic paraplegias are a large, diverse group of neurological disorders (SPG1-71) with the unifying feature of prominent lower extremity spasticity, owing to a length-dependent axonopathy of corticospinal motor neurons. The most common early-onset form of pure, autosomal dominant hereditary spastic paraplegia is caused by mutation in the ATL1 gene encoding the atlastin-1 GTPase, which mediates...
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