Associated Papers
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
37103033 (PubMed )
Supplement: jcdd-10-00154-s001.zip › Table_S1.xlsx › GeneData
Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations.
Mhanni AA et al.
Jimd Reports, 2021
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
Coci EG et al.
Human Mutation, 2019
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Monnot S et al.
Human Mutation, 2009
Structure, mechanism and regulation of pyruvate carboxylase.
Jitrapakdee S et al.
The Biochemical Journal, 2008
Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.
Carbone MA et al.
The Biochemical Journal, 2003
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
Carbone MA et al.
American Journal of Human Genetics, 1998
Lactic acidemia and mitochondrial disease.
Robinson BH
Molecular Genetics and Metabolism, 0
The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
Wang D et al.
Molecular Genetics and Metabolism, 0
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