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
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
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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