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