LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations

Molecular Genetics and Metabolism Reports - Tập 30 - Trang 100844 - 2022
Navya Kanderi1,2, Brian Kirmse3, Debra S. Regier1, Kimberly A. Chapman1
1Children's National Rare Disease Institute, Washington, DC, United States of America
2Howard University Medical School, Washington, DC, United States of America
3University of Mississippi, Jackson, MS, United States of America

Tài liệu tham khảo

Schweitzer, 2015, Rhabdomyolysis-associated mutations in human LPIN1 lead to loss of phosphatidic acid phosphohydrolase activity, JIMD Rep., 23, 113, 10.1007/8904_2015_440

Jiang, 2015, Lipin1 regulates skeletal muscle differentiation through extracellular signal-regulated kinase (ERK) activation and cyclin D complex-regulated cell cycle withdrawal, J. Biol. Chem., 290, 23646, 10.1074/jbc.M115.686519

Kim, 2010, Lipin 1 represses NFATc4 transcriptional activity in adipocytes to inhibit secretion of inflammatory factors, Mol. Cell. Biol., 30, 3126, 10.1128/MCB.01671-09