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Article

Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro.

The Biochemical journal - 15 Aug 2003

Lumb Michael J, Birdsey Graeme M, Danpure Christopher J

Abstract excerpt

In normal human hepatocytes, the intermediary-metabolic enzyme alanine:glyoxylate aminotransferase (AGT) is located within the peroxisomes. However, in approx. one-third of patients suffering from the hereditary kidney stone disease primary hyperoxaluria type 1, AGT is mistargeted to the mitochondria. AGT mistargeting results from the synergistic interaction between a common P11L (Pro11-->Leu) polymorphism and a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 12737622
DOI: 10.1042/BJ20030371
PMCID: PMC1223567

Genes

AGT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro.PMID 12737622Read ↗

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