A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.

We describe here evidence of congenital enzyme mistargeting induced not by abnormalities in the signal sequence. We examined the molecular mechanism of hereditary ornithine aminotransferase (OAT) deficiency causing gyrate atrophy of the choroid and retina (GACR). Nucleotide sequencing of OAT cDNA ge...

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Hauptverfasser: Kobayashi, T, Ogawa, H, Kasahara, M, Shiozawa, Z, Matsuzawa, T
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1995
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801533/
https://ncbi.nlm.nih.gov/pubmed/7668253
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