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Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP).

Nucleic acids research - 9 Feb 2024

Ahmad Raja Norazireen Raja, Zhang Long-Teng, Morita Rikuri, Tani Haruna, Wu Yong, Chujo Takeshi, Ogawa Akiko, Harada Ryuhei, Shigeta Yasuteru, Tomizawa Kazuhito, Wei Fan-Yan

Abstract excerpt

MTU1 controls intramitochondrial protein synthesis by catalyzing the 2-thiouridine modification of mitochondrial transfer RNAs (mt-tRNAs). Missense mutations in the MTU1 gene are associated with life-threatening reversible infantile hepatic failure. However, the molecular pathogenesis is not well understood. Here, we investigated 17 mutations associated with this disease, and our results showed that most...

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Share to Endopeptidase Clp
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38113276
DOI: 10.1093/nar/gkad1197
PMCID: PMC10853782

Genes

CLPP
CLPX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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