A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference13 articles.
1. Prediction of protein structure;Chou;Biochemistry,1974
2. Immunocytochemical localization of human hepatic alanine:glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1;Cooper;J. Histochem. Cytochem,1988
3. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: Peroxisomal alanine:glyoxylate aminotransferase rerouted to mitochondria;Danpure;J. Cell Biol,1989
4. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type 1;Danpure;FEBS Lett,1986
5. Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1;Danpure;Clin. Sci,1988
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1. Molecular basis of primary hyperoxaluria and strategies for diagnosis;Expert Opinion on Orphan Drugs;2015-04-12
2. Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2013-12
3. 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;Journal of Biological Chemistry;2013-01
4. Molecular insights into primary hyperoxaluria Type I pathogenesis;Frontiers in Bioscience;2012
5. Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I;Molecular Genetics and Metabolism;2012-01
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