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

doi:10.1083/jcb.111.6.2341

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Article

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

The Journal of cell biology - 1 Dec 1990

Purdue P E, Takada Y, Danpure C J

Abstract excerpt

We have previously shown that in some patients with primary hyperoxaluria type 1 (PH1), disease is associated with mistargeting of the normally peroxisomal enzyme alanine/glyoxylate aminotransferase (AGT) to mitochondria (Danpure, C.J., P.J. Cooper, P.J. Wise, and P.R. Jennings. J. Cell Biol. 108:1345-1352). We have synthesized, amplified, cloned, and sequenced AGT cDNA from a PH1 patient with mitochondrial AGT...

Topics

Alanine Transaminase
Amino Acid Sequence
Base Sequence
Cloning, Molecular
Genes
Humans
Hyperoxaluria
Introns
Liver
Microbodies
Mitochondria, Liver

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Plasmids

Poly A

Polymerase Chain Reaction

Protein Conformation

Source

Open in PubMed Open full text

Identifiers

PMID: 1703535
DOI: 10.1083/jcb.111.6.2341
PMCID: PMC2116406

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1703535-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.PMID 1703535Read ↗

A unique molecular basis for enzyme mistargeting in primary hyperoxaluria type 1.Semantic proximity Read ↗

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

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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.Semantic proximity Read ↗

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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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