Articles with "paraplegin" as a keyword



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Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells

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Published in 2020 at "Frontiers in Neuroscience"

DOI: 10.3389/fnins.2020.00820

Abstract: Mutations in SPG7 and SPAST are common causes of hereditary spastic paraplegia (HSP). While some SPG7 mutations cause paraplegin deficiency, other SPG7 mutations cause increased paraplegin expression. Mitochondrial function has been studied in models that… read more here.

Keywords: spast patient; mitochondrial function; patient cells; paraplegin ... See more keywords