Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy

As a consequence of impaired glucose or fatty acid metabolism, bioenergetic stress in skeletal muscles may trigger myopathy and rhabdomyolysis. Genetic mutations causing loss of function of the LPIN1 gene frequently lead to severe rhabdomyolysis bouts in children, though the metabolic alterations an...

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Detalles Bibliográficos
Autores principales: Rashid, Talha, Nemazanyy, Ivan, Paolini, Cecilia, Tatsuta, Takashi, Crespin, Paul, de Villeneuve, Delphine, Brodesser, Susanne, Benit, Paule, Rustin, Pierre, Baraibar, Martin A, Agbulut, Onnik, Olivier, Anne, Protasi, Feliciano, Langer, Thomas, Chrast, Roman, de Lonlay, Pascale, de Foucauld, Helene, Blaauw, Bert, Pende, Mario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315296/
https://www.ncbi.nlm.nih.gov/pubmed/30420558
http://dx.doi.org/10.15252/embj.201899576

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