Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.

doi:10.1073/pnas.88.23.10900

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Article

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.

Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1991

Purdue P E, Allsop J, Isaya G, Rosenberg L E, Danpure C J

Abstract excerpt

In approximately one-third of primary hyperoxaluria type 1 patients, disease is associated with a unique protein sorting defect in which hepatic L-alanine:glyoxylate aminotransferase (AGT; EC 2.6.1.44), which is normally peroxisomal, is mistargeted to mitochondria. In all such patients analyzed to date, the gene encoding the aberrantly targeted AGT carries three point mutations, each of which specifies an amino...

Topics

Alanine Transaminase
Amino Acid Sequence
Animals
Base Sequence
Gene Expression Regulation, Enzymologic
Humans
Hyperoxaluria
Microbodies
Mitochondria
Mitochondria, Liver

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Oligodeoxyribonucleotides

Ornithine Carbamoyltransferase

Peptides

Plasmids

Protein Biosynthesis

Rats

Source

Open in PubMed Open full text

Identifiers

PMID: 1961759
DOI: 10.1073/pnas.88.23.10900
PMCID: PMC53039

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1961759-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.PMID 1961759Read ↗

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.Semantic proximity Read ↗

Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.Semantic proximity Read ↗

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The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.Semantic proximity Read ↗

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

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