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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Keyzer_Lonlay

ABSTRACT: Transcriptom profiling performed on myotubes derived from 3 patients carrying two recessively-inherited mutations in LPIN1 gene and 3 age and sex matched controls with or without TNF-alpha plus IL-1-beta stimulation for 24h.

ORGANISM(S): Homo sapiens

SUBMITTER: Nicolas Cagnard

PROVIDER: E-MEXP-3761 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.

Michot Caroline C Mamoune Asmaa A Vamecq Joseph J Viou Mai Thao MT Hsieh Lu-Sheng LS Testet Eric E Lainé Jeanne J Hubert Laurence L Dessein Anne-Frédérique AF Fontaine Monique M Ottolenghi Chris C Fouillen Laetitia L Nadra Karim K Blanc Etienne E Bastin Jean J Candon Sophie S Pende Mario M Munnich Arnold A Smahi Asma A Djouadi Fatima F Carman George M GM Romero Norma N de Keyzer Yves Y de Lonlay Pascale P

Biochimica et biophysica acta 20130806 12

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 phosphatase 1 activity, and a significant accumulation of lipid droplets (LD). The expre ...[more]

PMID: 23928362

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