Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis

LPIN1 mutations are responsible for inherited recurrent rhabdomyolysis, a life-threatening condition with no efficient therapeutic intervention. Here, we conduct a bedside-to-bench-and-back investigation to study the pathophysiology of lipin1 deficiency. We find that lipin1-deficient myoblasts exhib...

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Detalles Bibliográficos
Autores principales: Hamel, Yamina, Mauvais, François-Xavier, Madrange, Marine, Renard, Perrine, Lebreton, Corinne, Nemazanyy, Ivan, Pellé, Olivier, Goudin, Nicolas, Tang, Xiaoyun, Rodero, Mathieu P., Tuchmann-Durand, Caroline, Nusbaum, Patrick, Brindley, David N., van Endert, Peter, de Lonlay, Pascale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385327/
https://www.ncbi.nlm.nih.gov/pubmed/34467247
http://dx.doi.org/10.1016/j.xcrm.2021.100370

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385327/
https://www.ncbi.nlm.nih.gov/pubmed/34467247
http://dx.doi.org/10.1016/j.xcrm.2021.100370

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