Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Nanobodies as therapies for loss-of-function misfolding diseases: the example of Primary Hyperoxaluria Type 1.
Dindo M et al.
International Journal of Biological Macromolecules, 2025
Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.
Wan H et al.
Cell Reports. Medicine, 2025
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
A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.
Ruta L et al.
Journal of Inherited Metabolic Disease, 2025
Effect of the allelic background on the phenotype of primary hyperoxaluria type I.
Mandrile G et al.
Current Opinion in Nephrology and Hypertension, 2025
Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.
Zhu X et al.
Kidney Diseases (basel, Switzerland), 2024
A molecular journey on the pathogenesis of primary hyperoxaluria.
Cellini B
Current Opinion in Nephrology and Hypertension, 2024
Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.
Naguib S et al.
Genetic Testing and Molecular Biomarkers, 2024
Insights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants.
Vankova P et al.
Febs Letters, 2024
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 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
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.
Ahmed HA et al.
Molecular Genetics & Genomic Medicine, 2022
Identification of Human Alanine-Glyoxylate Aminotransferase Ligands as Pharmacological Chaperones for Variants Associated with Primary Hyperoxaluria Type 1.
Grottelli S et al.
Journal of Medicinal Chemistry, 2022
Structural dynamics shape the fitness window of alanine:glyoxylate aminotransferase.
Dindo M et al.
Protein Science : a Publication of the Protein Society, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
Murad H et al.
Bmc Medical Genomics, 2021
Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting.
Dindo M et al.
Journal of Personalized Medicine, 2021
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.
Zhao F et al.
Urolithiasis, 2021
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
Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses.
Medina-Carmona E et al.
Human Molecular Genetics, 2019
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.
Lu X et al.
Frontiers in Pharmacology, 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
Evolutionary Divergent Suppressor Mutations in Conformational Diseases.
Mesa-Torres N et al.
Genes, 2018
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.
Belostotsky R et al.
Journal of Molecular Medicine (berlin, Germany), 2018
Host genetic profiling to increase drug safety in colorectal cancer from discovery to implementation.
Cecchin E et al.
Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy, 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
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
Kanoun H et al.
Bmc Nephrology, 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
Drug Library Screening for the Identification of Ionophores That Correct the Mistrafficking Disorder Associated with Oxalosis Kidney Disease.
Hou S et al.
Slas Discovery : Advancing Life Sciences R & D, 2017
Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T.
Dindo M et al.
Biochimie, 2016
Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
M'dimegh S et al.
Transplant Immunology, 2016
Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.
Wang C et al.
Scientific Reports, 2016
A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.
M'Dimegh S et al.
Journal of Genetics, 2016
AGXT and ERCC2 polymorphisms are associated with clinical outcome in metastatic colorectal cancer patients treated with 5-FU/oxaliplatin.
Kjersem JB et al.
The Pharmacogenomics Journal, 2016
Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
Fargue S et al.
Biochimica Et Biophysica Acta, 2016
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Boualla L et al.
Genetic Testing and Molecular Biomarkers, 2015
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Hopp K et al.
Journal of the American Society of Nephrology : Jasn, 2015
Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.
Montioli R et al.
Biochimica Et Biophysica Acta, 2015
Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria.
Mesa-Torres N et al.
Biomolecules, 2015
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
The lower limits for protein stability and foldability in primary hyperoxaluria type I.
Mesa-Torres N et al.
Biochimica Et Biophysica Acta, 2014