Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis
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Adzhubei, 2010, A method and server for predicting damaging missense mutations, Nat. Methods, 7, 248, 10.1038/nmeth0410-248
Bergounioux, 2012, Fatal rhabdomyolysis in 2 children with LPIN1 mutations, J. Pediatr., 60, 1052, 10.1016/j.jpeds.2012.02.033
Bosch, 2009, Rhabdomyolysis and acute kidney injury, N. Engl. J. Med., 361, 62, 10.1056/NEJMra0801327
Burroughs, 2006, Evolutionary genomics of the HAD superfamily: understanding the structural adaptations and catalytic diversity in a superfamily of phosphoesterases and allied enzymes, J. Mol. Biol., 361, 1003, 10.1016/j.jmb.2006.06.049
Cao, 2002, Identification of single-nucleotide polymorphisms in the human LPIN1 gene, J. Hum. Genet., 47, 370, 10.1007/s100380200052
Chang, 2010, The associations of LPIN1 gene expression in adipose tissue with metabolic phenotypes in the Chinese population, Obesity, 18, 7, 10.1038/oby.2009.198
Donkor, 2007, Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns, J. Biol. Chem., 282, 3450, 10.1074/jbc.M610745200
Donkor, 2009, A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2, J. Biol. Chem., 284, 29968, 10.1074/jbc.M109.023663
Fawcett, 2008, Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations, Diabetes, 57, 2527, 10.2337/db08-0422
Finck, 2006, Lipin 1 is an inducible amplifier of the hepatic PGC-1alpha/PPARalpha regulatory pathway, Cell Metab., 4, 199, 10.1016/j.cmet.2006.08.005
Hamel, 2015, Acute rhabdomyolysis and inflammation, J. Inherit. Metab. Dis., 38, 621, 10.1007/s10545-015-9827-7
Han, 2010, Characterization of the human LPIN1-encoded phosphatidate phosphatase isoforms, J. Biol. Chem., 285, 14628, 10.1074/jbc.M110.117747
Han, 2006, The Saccharomyces cerevisiae lipin homolog is a Mg2+−dependent phosphatidate phosphatase enzyme, J. Biol. Chem., 281, 9210, 10.1074/jbc.M600425200
Loos, 2007, Association of lipin 1 gene polymorphisms with measures of energy and glucose metabolism, Obesity, 15, 2723, 10.1038/oby.2007.324
López, 1995, Myoplasmic Ca2+ concentration during exertional rhabdomyolysis, Lancet, 345, 424, 10.1016/S0140-6736(95)90405-0
Melli, 2005, Rhabdomyolysis: an evaluation of 475 hospitalized patients, Medicine (Baltimore), 84, 377, 10.1097/01.md.0000188565.48918.41
Michot, 2010, LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood, Hum. Mutat., 31, E1564, 10.1002/humu.21282
Michot, 2012, Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia, J. Inherit. Metab. Dis., 35, 1119, 10.1007/s10545-012-9461-6
Michot, 2013, Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts, Biochim. Biophys. Acta, 1832, 2103, 10.1016/j.bbadis.2013.07.021
Mul, 2011, A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat, J. Biol. Chem., 286, 26781, 10.1074/jbc.M110.197947
Péterfy, 2001, Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin, Nat. Genet., 27, 121, 10.1038/83685
Péterfy, 2005, Alternatively spliced lipin isoforms exhibit distinct expression pattern, subcellular localization, and role in adipogenesis, J. Biol. Chem., 280, 32883, 10.1074/jbc.M503885200
Seifried, 2013, Human HAD phosphatases: structure, mechanism, and roles in health and disease, FEBS J., 280, 549, 10.1111/j.1742-4658.2012.08633.x
Suviolahti, 2006, Cross-species analyses implicate lipin 1 involvement in human glucose metabolism, Hum. Mol. Genet., 15, 377, 10.1093/hmg/ddi448
Takeuchi, 2009, Biochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis, Am. J. Physiol. Endocrinol. Metab., 296, 10.1152/ajpendo.90958.2008
Wiedmann, 2008, Genetic variants within the LPIN1 gene, encoding lipin, are influencing phenotypes of the metabolic syndrome in humans, Diabetes, 57, 209, 10.2337/db07-0083
Zeharia, 2008, Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood, Am. J. Hum. Genet., 83, 489, 10.1016/j.ajhg.2008.09.002
Zhang, 2013, Genetic variants of LPIN1 indicate an association with type 2 diabetes mellitus in a Chinese population, Diabet. Med., 30, 118, 10.1111/j.1464-5491.2012.03758.x
Zhang, 2014, Lipin-1 regulates autophagy clearance and intersects with statin drug effects in skeletal muscle, Cell Metab., 20, 267, 10.1016/j.cmet.2014.05.003