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The results show that AMPK activation by GSK773 evokes the slow, oxidative myogenic program and triggers beneficial phenotypic adaptations in FAO-deficient myotubes. Thus, GSK773 might have therapeutic potential for correction of CPT2 deficiency
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To the best of our knowledge, this is the first report of the coexistence of VHL disease and CPT2 deficiency in the same individual. Based on findings from animal models, the case illustrates that mutations in the VHL gene might protect against renal damage caused by CPT2 gene mutations.
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this study shows that upregulation of the citrate pathway and down-regulation of carnitine/acylcarnitine carrier gene in cells from children with Down syndrome
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The clinical presentation of patients with muscle carnitine palmitoyltransferase II deficiency is discussed in this review in line with enzymatic features. The thermolability of the mutant enzyme might explain why symptoms in muscle CPT II deficiency mainly occur during prolonged exercise, infections and exposure to cold. [review]
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Variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome.
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polymorphism may be associated with severity of EV71 infection
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CPT2 is active inside the mitochondrial matrix to recover acyl-CoA from a process generally known as the carnitine shuttle. This protein is expressed in a constitutive way in all cells and tissues.
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CPT II deficiency induces an energy crisis of the fatty acid metabolic pathway.
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L-carnitine deficiency participates in the pathogenesis of endometrial cancer by means of a mechanism which is unrelated with obesity and increased amount of fat in human body.
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The rs2229291 and rs1799821 variants in CPT II gene might be one of the predisposing factors of acute encephalitis.
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The F352C CPT2 variant might be a genetic risk factor for sudden unexpected death in infancy
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The data indicate that within the muscle form of CPT II deficiency, the various genotypes have only marginal influence on the clinical and biochemical phenotype.
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The present study shows that screening for second mutations in patients that are heterozygote for the common p.S113L is justified although rare symptomatic heterozygotes.
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The homozygous genotype (AA) of CPT2 variant V368I had significantly less blood carnitine in acute myocardial infarction patients.
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Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency
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CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mitochondrial fatty acid beta-oxidation disorders.
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the thermolabile F352C CPT II variant, found only in Japanese, might be one of the predisposing factors to trigger the pathomechanism of acute encephalopathy in the Japanese population
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A homozygous mutation (c.534_558del25bpinsT) of CPT2 in a case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life.
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Data demonstrated the thermolabile CPT-II variants in demonstrated the thermolabile CPT-II variants in patients with viral infection-associated encephalopathy in Chinese population.
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Results revealed that having at least one carnitine palmitoyl transferase II CIM allele is a risk factor for the onset of acute encephalopathy, regardless of its antecedent infections.
