Articles with "spg31 patients" as a keyword



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Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

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Published in 2017 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddw425

Abstract: Hereditary spastic paraplegia, SPG31, is a rare neurological disorder caused by mutations in REEP1 gene encoding the microtubule-interacting protein, REEP1. The mechanism by which REEP1-dependent processes are linked with the disease is unclear. REEP1 regulates… read more here.

Keywords: mitochondrial morphology; morphology; distribution; hyperphosphorylation ... See more keywords