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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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Detalles Bibliográficos
Autores principales: Wali, Gautam, Kumar, Kishore Raj, Liyanage, Erandhi, Davis, Ryan L., Mackay-Sim, Alan, Sue, Carolyn M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469654/
https://www.ncbi.nlm.nih.gov/pubmed/32973427
http://dx.doi.org/10.3389/fnins.2020.00820

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