Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
about
Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly TMEM188) is the metazoan Spo7p ortholog and functions in the lipin activation pathwayLipins, lipinopathies, and the modulation of cellular lipid storage and signalingNew advances in molecular mechanisms and emerging therapeutic targets in alcoholic liver diseasesPhosphorylation regulates the ubiquitin-independent degradation of yeast Pah1 phosphatidate phosphatase by the 20S proteasome.Yeast Nem1-Spo7 protein phosphatase activity on Pah1 phosphatidate phosphatase is specific for the Pho85-Pho80 protein kinase phosphorylation sites.Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsHomo sapiens dullard protein phosphatase shows a preference for the insulin-dependent phosphorylation site of lipin1A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg LectureLipin1 Regulates Skeletal Muscle Differentiation through Extracellular Signal-regulated Kinase (ERK) Activation and Cyclin D Complex-regulated Cell Cycle Withdrawal.Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity.Cell autonomous lipin 1 function is essential for development and maintenance of white and brown adipose tissueA hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the ratDual function lipin proteins and glycerolipid metabolismConcurrent Lpin1 and Nrcam mouse mutations result in severe peripheral neuropathy with transitory hindlimb paralysis.Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblastsThe unfolded protein response affects readthrough of premature termination codonsRemodeling adipose tissue through in silico modulation of fat storage for the prevention of type 2 diabetes.LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.Cross-talk phosphorylations by protein kinase C and Pho85p-Pho80p protein kinase regulate Pah1p phosphatidate phosphatase abundance in Saccharomyces cerevisiae.Phosphatidate degradation: phosphatidate phosphatases (lipins) and lipid phosphate phosphatases.Lipin-1 regulates autophagy clearance and intersects with statin drug effects in skeletal muscle.Myopathic causes of exercise intolerance with rhabdomyolysis.A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.Lipin is a central regulator of adipose tissue development and function in Drosophila melanogaster.Expression of the splicing factor gene SFRS10 is reduced in human obesity and contributes to enhanced lipogenesis.Mammalian triacylglycerol metabolism: synthesis, lipolysis, and signalingGlucose-6-phosphate isomerase deficiency results in mTOR activation, failed translocation of lipin 1α to the nucleus and hypersensitivity to glucose: Implications for the inherited glycolytic diseaseDiagnostic evaluation of rhabdomyolysis.Rhabdomyolysis: a genetic perspective.Discovering Pair-wise Synergies in Microarray DataMouse lipin-1 and lipin-2 cooperate to maintain glycerolipid homeostasis in liver and aging cerebellum.Altered Lipid Synthesis by Lack of Yeast Pah1 Phosphatidate Phosphatase Reduces Chronological Life Span.Optimum polygenic profile to resist exertional rhabdomyolysis during a marathon.Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitisLipins: multifunctional lipid metabolism proteinsNegative control of mast cell degranulation and the anaphylactic response by the phosphatase lipin1Redundant roles of the phosphatidate phosphatase family in triacylglycerol synthesis in human adipocytesBiochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis.Lipin proteins and metabolic homeostasis.
P2860
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P2860
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
@en
type
label
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
@en
prefLabel
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
@en
P2093
P2860
P50
P1476
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood
@en
P2093
Avraham Shaag
Avraham Zeharia
Frédéric M Vaz
Gideon Eshel
Gilli Erez
Laurence Hubert
Orly Elpeleg
Pascale de Lonlay
Tareq Hindi
Yves de Keyzer
P2860
P304
P356
10.1016/J.AJHG.2008.09.002
P407
P577
2008-09-25T00:00:00Z