Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria

Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone disease caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT), which is involved in glyoxylate detoxification. Over 75 different missense mutations in AGT have been found associated with...

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Veröffentlicht in:	PloS one 2014-04, Vol.9 (4), p.e94338-e94338
Hauptverfasser:	Lage, Melissa D, Pittman, Adrianne M C, Roncador, Alessandro, Cellini, Barbara, Tucker, Chandra L
Format:	Artikel
Sprache:	eng
Schlagworte:	Alanine Alleles Allelomorphism Analysis Biology Biology and Life Sciences Care and treatment Cloning Detoxification Diagnosis Dihydrofolate reductase Enzymatic activity Enzyme activity Enzyme Stability Enzymes Genetic Predisposition to Disease Health aspects Humans Hyperoxaluria Hyperoxaluria, Primary - enzymology Hyperoxaluria, Primary - genetics Kidney stones Kidneys Life sciences Localization Missense mutation Models, Molecular Molecular structure Mutant Proteins - metabolism Mutants Mutation Mutation - genetics Oxaluria Primary hyperoxaluria Protein Multimerization Protein transport Proteins Research and Analysis Methods Risk factors Stability analysis Synergism Transaminases - chemistry Transaminases - genetics Yeast
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