Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. - Wikidata - wikimedia - TriplyDB

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

http://www.wikidata.org/entity/Q37500313

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Protein trafficking defects in inherited kidney diseases Crystal structure of the S187F variant of human liver alanine: Aminotransferase associated with primary hyperoxaluria type I and its functional implications Molecular Requirements for Peroxisomal Targeting of Alanine-Glyoxylate Aminotransferase as an Essential Determinant in Primary Hyperoxaluria Type 1 The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I Ligand-induced compaction of the PEX5 receptor-binding cavity impacts protein import efficiency into peroxisomes Protein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1.Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing Primary hyperoxaluria.Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria Primary and secondary hyperoxaluria: Understanding the enigma Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy A rare case of hyperoxaluria presenting with acute liver injury and stone-free kidney injury.Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1 Rapid profiling of disease alleles using a tunable reporter of protein misfolding.Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones Genetic determinants of urolithiasis.Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice.An update on primary hyperoxaluria.Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.Liver-kidney transplantation in primary hyperoxaluria type-1: case report and literature review.Primary hyperoxalurias: diagnosis and treatment.Primary hyperoxaluria type 1 in 18 children: genotyping and outcome.Oxalate, inflammasome, and progression of kidney disease Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.Primary hyperoxaluria: spectrum of clinical and imaging findings.A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.Kidney injury molecule-1 is up-regulated in renal epithelial cells in response to oxalate in vitro and in renal tissues in response to hyperoxaluria in vivo Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria.Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.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.Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution.

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Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

http://www.wikidata.org/entity/Q37500313

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on June 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

@en

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

@nl

type

label

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

@en

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

@nl

prefLabel

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

@en

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

@nl

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Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene

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Angela Robbiano

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Carla G Monico

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Cecile Acquaviva

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Eduardo Salido

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Emma L Williams

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Francoise Chevalier

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Gill Rumsby

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Hans Waterham

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Tricia Owen

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P2860

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon

Functional analysis of the 5'-flanking region of the human alanine:glyoxylate aminotransferase gene AGXT.

Pyridoxal 5'-phosphate binding of a recombinant rat serine: pyruvate/alanine:glyoxylate aminotransferase.

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910-917

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scholarly article

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10.1002/HUMU.21021

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6

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30

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Antonio Amoroso

Daniela Giachino

Marion Coulter-Mackie

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2009-06-01T00:00:00Z

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