Article
Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.
Biochimica et biophysica acta - 1 Dec 2013
Michot Caroline, Mamoune Asmaa, Vamecq Joseph, Viou Mai Thao, Hsieh Lu-Sheng, Testet Eric, Lainé Jeanne, Hubert Laurence, Dessein Anne-Frédérique, Fontaine Monique, Ottolenghi Chris, Fouillen Laetitia, Nadra Karim, Blanc Etienne, Bastin Jean, Candon Sophie, Pende Mario, Munnich Arnold, Smahi Asma, Djouadi Fatima, Carman George M, Romero Norma, de Keyzer Yves, de Lonlay Pascale
Abstract excerpt
Lipin-1 deficiency is associated with massive rhabdomyolysis episodes in humans, precipitated by febrile illnesses. Despite well-known roles of lipin-1 in lipid biosynthesis and transcriptional regulation, the pathogenic mechanisms leading to rhabdomyolysis remain unknown. Here we show that primary myoblasts from lipin-1-deficient patients exhibit a dramatic decrease in LPIN1 expression and phosphatidic acid...
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