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Article

Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.

Biochimica et biophysica acta - 1 Oct 2015

Montioli Riccardo, Oppici Elisa, Dindo Mirco, Roncador Alessandro, Gotte Giovanni, Cellini Barbara, Borri Voltattorni Carla

Abstract excerpt

Liver peroxisomal alanine:glyoxylate aminotransferase (AGT), a pyridoxal 5'-phosphate (PLP) enzyme, exists as two polymorphic forms, the major (AGT-Ma) and the minor (AGT-Mi) haplotype. Deficit of AGT causes Primary Hyperoxaluria Type 1 (PH1), an autosomal recessive rare disease. Although ~one-third of the 79 disease-causing missense mutations segregates on AGT-Mi, only few of them are well characterized. Here...

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Identifiers

PMID: 26149463
DOI: 10.1016/j.bbapap.2015.07.002

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AGT

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Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.PMID 26149463Read ↗

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