Title : Molecular insights into primary hyperoxaluria type 1 pathogenesis.

Pub. Date : 2012 Jan 1

PMID : 22201765






2 Functional Relationships(s)
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1 These recent discoveries highlight the effects at the protein level of the pathogenic mutations, and, together with previous cell biology and clinical data, (i) improve the understanding of the molecular basis of PH1 pathogenesis, and (ii) help to delineate perspectives for predicting the response to pyridoxine treatment or for suggesting new strategies for PH1 patients bearing the analyzed mutations. Pyridoxine alanine--glyoxylate and serine--pyruvate aminotransferase Homo sapiens
2 These recent discoveries highlight the effects at the protein level of the pathogenic mutations, and, together with previous cell biology and clinical data, (i) improve the understanding of the molecular basis of PH1 pathogenesis, and (ii) help to delineate perspectives for predicting the response to pyridoxine treatment or for suggesting new strategies for PH1 patients bearing the analyzed mutations. Pyridoxine alanine--glyoxylate and serine--pyruvate aminotransferase Homo sapiens