Associated Papers
Generative AI Accelerates Genotype-Phenotype Characterization of a 1600-Case Leigh Syndrome Virtual Cohort from Published Literature.
Shen L
Biology, 2026
Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP).
Ahmad RNR et al.
Nucleic Acids Research, 2024
Leigh syndrome associated with TRMU gene mutations.
Sala-Coromina J et al.
Molecular Genetics and Metabolism Reports, 2021
Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.
Qin Z et al.
Molecular Genetics & Genomic Medicine, 2020
Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver Injury.
Wu Y et al.
Plos Genetics, 2016
Reversible infantile mitochondrial diseases.
Boczonadi V et al.
Journal of Inherited Metabolic Disease, 2015
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.
Gaignard P et al.
Jimd Reports, 2013
Acute infantile liver failure due to mutations in the TRMU gene.
Zeharia A et al.
American Journal of Human Genetics, 2009
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