Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
Clinical utility of genetic testing in Indian children with kidney diseases.
Saha A et al.
Bmc Nephrology, 2023
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A et al.
Clinical Genetics, 2023
Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan.
Hashmi S et al.
Urolithiasis, 2022
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Deesker LJ et al.
Kidney International Reports, 2022
Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report.
Zhao Y et al.
Translational Andrology and Urology, 2020
Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1.
Dindo M et al.
The Biochemical Journal, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF et al.
Current Medical Science, 2018
[Genetic and biochemical features of the monogenic hereditary urolithiasis].
Mikhaylenko DS et al.
Biomeditsinskaia Khimiia, 2018
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6.
Dindo M et al.
Journal of Inherited Metabolic Disease, 2018
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E et al.
Handbook of Experimental Pharmacology, 2018
Electrostatic interactions drive native-like aggregation of human alanine:glyoxylate aminostransferase.
Dindo M et al.
The Febs Journal, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
Williams EL et al.
Molecular Genetics & Genomic Medicine, 2015
Factors influencing clinical outcome in patients with primary hyperoxaluria type 1.
Fargue S
Kidney International, 2014
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
Oppici E et al.
Biochimica Et Biophysica Acta, 2013
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
Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.
Pey AL et al.
Biomed Research International, 2013
Primary hyperoxalurias: disorders of glyoxylate detoxification.
Salido E et al.
Biochimica Et Biophysica Acta, 2012
Molecular insights into primary hyperoxaluria type 1 pathogenesis.
Cellini B et al.
Frontiers in Bioscience (landmark Edition), 2012
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.
Harambat J et al.
Kidney International, 2010
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
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Williams EL et al.
Human Mutation, 2009
Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.
Cellini B et al.
The Journal of Biological Chemistry, 2009
Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications.
Cellini B et al.
The Biochemical Journal, 2007
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Monico CG et al.
Journal of the American Society of Nephrology : Jasn, 2007
Primary hyperoxaluria: from gene defects to designer drugs?
Danpure CJ
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2005
Clinical implications of mutation analysis in primary hyperoxaluria type 1.
van Woerden CS et al.
Kidney International, 2004
The molecular basis of kidney stones.
Langman CB
Current Opinion in Pediatrics, 2004
Molecular aetiology of primary hyperoxaluria and its implications for clinical management.
Danpure CJ et al.
Expert Reviews in Molecular Medicine, 2004
Molecular aetiology of primary hyperoxaluria type 1.
Danpure CJ
Nephron. Experimental Nephrology, 2004
Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.
Zhang X et al.
Journal of Molecular Biology, 2003
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2003
Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.
Coulter-Mackie MB et al.
Molecular Genetics and Metabolism, 2001
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
Lumb MJ et al.
The Journal of Biological Chemistry, 2000
Identification of 5 novel mutations in the AGXT gene.
Basmaison O et al.
Human Mutation, 2000
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
Monico CG et al.
American Journal of Nephrology, 0
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
Coulter-Mackie MB
American Journal of Nephrology, 0
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Robbiano A et al.
Journal of Nephrology, 0