| 1 | PC
|
| 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
|
| 2 | PC, PCDLA
|
| 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
|
| 3 | PC
|
| 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
|
| 4 | PC
|
| 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
|
| 5 | PC, PCDLA
|
| 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
|
| 6 | PC, PCDLA
|
| 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
|
| 7 | PC
|
| 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
|
| 8 | PC, PCDLA
|
| Molecular characterization fo pyruvate carboxylase deficiency in two consanguineous families.
|
| Wexler ID, et al.
|
| Pediatr Res 43 : 579-584. 1998
|
| 9 | PC, PCDLA
|
| Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
|
| Carbone MA, et al.
|
| Am J Hum Genet 62 : 1312-1319. 1998
|
| 10 | PC
|
| 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
|
| 11 | PC
|
| Primary amino acid sequence and structure of human pyruvate carboxylase.
|
| Wexler ID, et al.
|
| Biochim Biophys Acta 1227 : 46-52. 1994
|
| 12 | PC
|
| 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
|
| 13 | PC
|
| Hyperalaninemia with pyruvicemia.
|
| Tada K, et al.
|
| Tohoku J Exp Med 97 : 99-100. 1969
|