PEPCK 1 Deficiency Latest Advances

Find the Latest Research About PEPCK 1 Deficiency

Last Updated: 02/24/2026

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Found 60 publications

Round and round we go: phosphoenolpyruvate carboxykinase 1 (PCK1) in cataplerosis, mitochondrial, and kidney health.

Round and round we go: phosphoenolpyruvate carboxykinase 1 (PCK1) in cataplerosis, mitochondrial, and kidney health.

Journal: Kidney international

Published: July 13, 2025

Transcriptional and epigenetic responses to acute hypoxia exposure in rainbow trout (Oncorhynchus mykiss).

Transcriptional and epigenetic responses to acute hypoxia exposure in rainbow trout (Oncorhynchus mykiss).

Journal: Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology

Published: May 15, 2025

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.

Journal: American journal of medical genetics. Part A

Published: May 15, 2025

Notoginsenoside R1 Improved Hypoxic Pulmonary Hypertension by Inhibiting Glycolysis-Mediated Pulmonary Arterial Vascular Remodeling.

Notoginsenoside R1 Improved Hypoxic Pulmonary Hypertension by Inhibiting Glycolysis-Mediated Pulmonary Arterial Vascular Remodeling.

Journal: Canadian respiratory journal

Published: April 09, 2025

Decreased expression of insulin-degrading enzyme increases gluconeogenesis and glucose production in cultured hepatocytes administered with glucagon.

Decreased expression of insulin-degrading enzyme increases gluconeogenesis and glucose production in cultured hepatocytes administered with glucagon.

Journal: Scientific reports

Published: March 17, 2025

PCK1 deficiency promotes MASH-HCC progression by 12-HETE-induced CD8+ T cell dysfunction.

PCK1 deficiency promotes MASH-HCC progression by 12-HETE-induced CD8+ T cell dysfunction.

Journal: Gut

Published: December 10, 2024

The neglected PCK1/glucagon (inter)action in nutrient homeostasis beyond gluconeogenesis: Disease pathogenesis and treatment.

The neglected PCK1/glucagon (inter)action in nutrient homeostasis beyond gluconeogenesis: Disease pathogenesis and treatment.

Journal: Molecular metabolism

Published: November 30, 2024

Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth.

Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth.

Journal: Molecular genetics and metabolism reports

Published: October 02, 2024

Phosphoenolpyruvate carboxykinase 1-mediated cataplerosis is required to maintain mitochondrial fitness and to avoid kidney disease progression.

Phosphoenolpyruvate carboxykinase 1-mediated cataplerosis is required to maintain mitochondrial fitness and to avoid kidney disease progression.

Journal: Kidney international

Published: September 09, 2024

Hepatocyte-specific RIG-I loss attenuates metabolic dysfunction-associated steatotic liver disease in mice via changes in mitochondrial respiration and metabolite profiles.

Hepatocyte-specific RIG-I loss attenuates metabolic dysfunction-associated steatotic liver disease in mice via changes in mitochondrial respiration and metabolite profiles.

Journal: Toxicological research

Published: June 21, 2024

Co-exposure of polyvinyl chloride microplastics with cadmium promotes nonalcoholic fatty liver disease in female ducks through oxidative stress and glycolipid accumulation.

Co-exposure of polyvinyl chloride microplastics with cadmium promotes nonalcoholic fatty liver disease in female ducks through oxidative stress and glycolipid accumulation.

Journal: Poultry science

Published: May 15, 2024

Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.

Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.

Journal: The American journal of case reports

Published: April 24, 2024

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Last Updated: 02/24/2026