Associated Papers
Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.
Gatticchi L et al.
The Journal of Biological Chemistry, 2025
Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1.
Dindo M et al.
The Biochemical Journal, 2019
The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.
Oppici E et al.
Acs Chemical Biology, 2015
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
Fargue S et al.
The Journal of Biological Chemistry, 2013
Molecular insights into primary hyperoxaluria type 1 pathogenesis.
Cellini B et al.
Frontiers in Bioscience (landmark Edition), 2012
Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants.
Cellini B et al.
Biochimica Et Biophysica Acta, 2011
Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I.
Cellini B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2008
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2006
Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor.
Coulter-Mackie MB et al.
Protein Expression and Purification, 2005
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 0
Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
Danpure CJ
American Journal of Nephrology, 0
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