Pyruvate Carboxylase Deficiency Latest Advances

Clinical Efficacy and Safety of the Ketogenic Diet in Patients with Genetic Confirmation of Drug-Resistant Epilepsy.

Journal: Nutrients

Published: February 24, 2025

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.

Journal: American journal of medical genetics. Part A

Published: February 10, 2025

Pyruvate Carboxylase in Macrophages Aggravates Atherosclerosis by Regulating Metabolism Reprogramming to Promote Inflammatory Responses Through the Hypoxia-Inducible Factor-1 Signaling Pathway.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: December 18, 2024

Deletion of Pyruvate Carboxylase in Tubular Epithelial Cell Promotes Renal Fibrosis by Regulating SQOR/cGAS/STING-Mediated Glycolysis.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: July 28, 2024

Staphylococcal aconitase expression during iron deficiency is controlled by an sRNA-driven feedforward loop and moonlighting activity.

Journal: Nucleic acids research

Published: April 01, 2024

Chronic binge alcohol mediated hepatic metabolic adaptations in SIV-infected female rhesus macaques.

Journal: Alcohol and alcoholism (Oxford, Oxfordshire)

Published: March 01, 2024

Compensatory activity of the PC-ME1 metabolic axis underlies differential sensitivity to mitochondrial complex I inhibition.

Journal: Nature communications

Published: January 07, 2024

The opposite role of lactate dehydrogenase a (LDHA) in cervical cancer under energy stress conditions.

Journal: Free radical biology & medicine

Published: November 22, 2023

In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.

Journal: Iranian biomedical journal

Published: October 24, 2023

Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.

Journal: JIMD reports

Published: October 21, 2023

Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.

Journal: Advances in laboratory medicine

Published: August 10, 2023

Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism.

Journal: Cell calcium

Published: April 25, 2023

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Clinical Efficacy and Safety of the Ketogenic Diet in Patients with Genetic Confirmation of Drug-Resistant Epilepsy.

Clinical Efficacy and Safety of the Ketogenic Diet in Patients with Genetic Confirmation of Drug-Resistant Epilepsy.

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.

Pyruvate Carboxylase in Macrophages Aggravates Atherosclerosis by Regulating Metabolism Reprogramming to Promote Inflammatory Responses Through the Hypoxia-Inducible Factor-1 Signaling Pathway.

Pyruvate Carboxylase in Macrophages Aggravates Atherosclerosis by Regulating Metabolism Reprogramming to Promote Inflammatory Responses Through the Hypoxia-Inducible Factor-1 Signaling Pathway.

Deletion of Pyruvate Carboxylase in Tubular Epithelial Cell Promotes Renal Fibrosis by Regulating SQOR/cGAS/STING-Mediated Glycolysis.

Deletion of Pyruvate Carboxylase in Tubular Epithelial Cell Promotes Renal Fibrosis by Regulating SQOR/cGAS/STING-Mediated Glycolysis.

Staphylococcal aconitase expression during iron deficiency is controlled by an sRNA-driven feedforward loop and moonlighting activity.

Staphylococcal aconitase expression during iron deficiency is controlled by an sRNA-driven feedforward loop and moonlighting activity.

Chronic binge alcohol mediated hepatic metabolic adaptations in SIV-infected female rhesus macaques.

Chronic binge alcohol mediated hepatic metabolic adaptations in SIV-infected female rhesus macaques.

Compensatory activity of the PC-ME1 metabolic axis underlies differential sensitivity to mitochondrial complex I inhibition.

Compensatory activity of the PC-ME1 metabolic axis underlies differential sensitivity to mitochondrial complex I inhibition.

The opposite role of lactate dehydrogenase a (LDHA) in cervical cancer under energy stress conditions.

The opposite role of lactate dehydrogenase a (LDHA) in cervical cancer under energy stress conditions.

In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.

In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.

Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.

Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.

Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.

Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.

Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism.

Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism.