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
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
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
31880409 (PubMed )
Supplement: MGG3-8-e1053-s001.xlsx › Sheet1
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?]
Gil-Margolis M et al.
Harefuah, 2018
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Reversible infantile mitochondrial diseases.
Boczonadi V et al.
Journal of Inherited Metabolic Disease, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
The effect of small molecules on nuclear-encoded translation diseases.
Soiferman D et al.
Biochimie, 2014
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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