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

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 are paraplegin-deficient (human, mouse, and...

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Detalhes bibliográficos
Publicado no:Front Neurosci
Main Authors: Wali, Gautam, Kumar, Kishore Raj, Liyanage, Erandhi, Davis, Ryan L., Mackay-Sim, Alan, Sue, Carolyn M.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7469654/
https://ncbi.nlm.nih.gov/pubmed/32973427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2020.00820
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