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
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Murali CN et al.
Molecular Genetics and Metabolism, 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
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