Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 123, Issue 10, Pages 4134-4136Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI72324
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Funding
- NIMH NIH HHS [R01 MH077298, MH077298, MH063232, R01 MH063232] Funding Source: Medline
- NINDS NIH HHS [R01 NS078291, NS078291, K02 NS057666, NS057666] Funding Source: Medline
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The hereditary spastic paraplegias (HSPs) are characterized by spasticity of the leg muscles due to axonal degeneration of corticospinal neurons. Beetz et al. report that the core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associated gene Reep1. REEP1 is shown to regulate ER structure in motor cortex neurons. The Reep1 knockout mouse should be a very useful model in which to study the mechanisms of progressive axon loss in HSPs and other disorders.
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