Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models

Pathogenic variants in the human F-box and leucine-rich repeat protein 4 (FBXL4) gene result in an autosomal recessive, multisystemic, mitochondrial disorder involving variable mitochondrial depletion and respiratory chain complex deficiencies with lactic acidemia. As no FDA-approved effective thera...

Descripción completa

Detalles Bibliográficos
Autores principales: Lavorato, Manuela, Nakamaru-Ogiso, Eiko, Mathew, Neal D., Herman, Elizabeth, Shah, Nina, Haroon, Suraiya, Xiao, Rui, Seiler, Christoph, Falk, Marni J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9462489/
https://www.ncbi.nlm.nih.gov/pubmed/35881484
http://dx.doi.org/10.1172/jci.insight.156346

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9462489/
https://www.ncbi.nlm.nih.gov/pubmed/35881484
http://dx.doi.org/10.1172/jci.insight.156346

Ejemplares similares