Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis
Molecular Genetics and Metabolism Reports, 2015 Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the tricarboxylic acid (TCA ...
F. Habarou +13 more
doaj +3 more sources
Author Correction: CryoEM structural exploration of catalytically active enzyme pyruvate carboxylase [PDF]
Nature Communications, 2022 Jorge Pedro López-Alonso +6 more
doaj +4 more sources
A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
Acta Medica Iranica, 2021 Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters.
shahin koohmanaee +7 more
doaj +2 more sources
Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency [PDF]
Advances in Laboratory MedicinePyruvate carboxylase, a mitochondrial enzyme, catalyses the conversion of glycolytic end-product pyruvate to tricarboxylic acid cycle intermediate, oxaloacetate. Rare pyruvate carboxylase deficiency manifests in three clinical and biochemical phenotypes:
Jasinge Eresha +12 more
doaj +2 more sources
Pyruvate carboxylase supports the pulmonary tropism of metastatic breast cancer
Breast Cancer Research, 2018 Background Overcoming systemic dormancy and initiating secondary tumor grow under unique microenvironmental conditions is a major rate-limiting step in metastatic progression.
Aparna Shinde +4 more
doaj +2 more sources
A distinct holoenzyme organization for two-subunit pyruvate carboxylase
Nature Communications, 2016 Pyruvate carboxylases are homotetrameric enzymes in eukaryotes and most bacteria. Here, the authors report the structure of an unusual two-subunit form of the enzyme from the Gram-negative bacterium Methylobacillus flagellates, revealing an unexpected ...
Philip H. Choi +6 more
doaj +2 more sources
Targeting Pyruvate Carboxylase by a Small Molecule Suppresses Breast Cancer Progression
Advanced Science, 2020 Rapid metabolism differentiates cancer cells from normal cells and relies on anaplerotic pathways. However, the mechanisms of anaplerosis‐associated enzymes are rarely understood.
Qingxiang Lin +12 more
doaj +2 more sources
A Substrate-induced Biotin Binding Pocket in the Carboxyltransferase Domain of Pyruvate Carboxylase [PDF]
Journal of Biological Chemistry, 2013 Biotin-dependent enzymes catalyze carboxyl transfer reactions by efficiently coordinating multiple reactions between spatially distinct active sites. Pyruvate carboxylase (PC), a multifunctional biotin-dependent enzyme, catalyzes the bicarbonate- and ...
Lietzan, Adam D, Maurice, Martin St.
core +3 more sources
Inhibitors of Pyruvate Carboxylase [PDF]
The open enzyme inhibition journal, 2010 This review aims to discuss the varied types of inhibitors of biotin-dependent carboxylases, with an emphasis on the inhibitors of pyruvate carboxylase.
Attwood, Paul V. +2 more
core +4 more sources
PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report [PDF]
Frontiers in Pediatrics, 2022 BackgroundPyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels ...
DongYing Tao +6 more
doaj +2 more sources