Associated Papers
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
38113276 (PubMed )
Supplement: gkad1197_supplemental_file.pdf
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
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
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