Citations for
Pyruvate carboxylase is expressed in human skeletal muscle.
Minet AD, Gaster M.
Biochem Biophys Res Commun 402(2):196-7. Epub 2010 Aug 31. 2010
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP.
Hum Mutat 30(5):734-40. 2009
Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.
MacDonald MJ, Longacre MJ, Langberg EC, Tibell A, Kendrick MA, Fukao T, Ostenson CG.
Diabetologia 52(6):1087-91. Epub 2009 Mar 19. 2009
Structure, mechanism and regulation of pyruvate carboxylase.
Jitrapakdee S, St Maurice M, Rayment I, Cleland WW, Wallace JC, Attwood PV.
Biochem J 413(3):369-87. Review. 2008
The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
Wang D, Yang H, De Braganca KC, Lu J, Yu Shih L, Briones P, Lang T, De Vivo DC.
Mol Genet Metab 95(1-2):31-8. Epub 2008 Aug 3. 2008
A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.
Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N.
Mol Genet Metab 87(2):175-7. Epub 2005 Dec 1. 2006
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.
Carbone MA, Applegarth DA, Robinson BH.
Hum Mutat 20(1):48-56. 2002
Molecular characterization fo pyruvate carboxylase deficiency in two consanguineous families.
Wexler ID, et al.
Pediatr Res 43 : 579-584. 1998
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
Carbone MA, et al.
Am J Hum Genet 62 : 1312-1319. 1998
Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridisation.
Walker ME, et al.
Cytogenet Cell Genet 69 : 187-189. 1995
Primary amino acid sequence and structure of human pyruvate carboxylase.
Wexler ID, et al.
Biochim Biophys Acta 1227 : 46-52. 1994
Molecular cloning of a cDNA for human pyruvate carboxylase structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes.
Freytag SO, et al.
J Biol Chem 259 : 12831-12837. 1984
Hyperalaninemia with pyruvicemia.
Tada K, et al.
Tohoku J Exp Med 97 : 99-100. 1969