Associated Papers
Deficient mitochondrial tRNA modifications arising from TRMU mutation led to the liver-specific failure.
He X et al.
The Journal of Biological Chemistry, 2026
A novel BCAP31 variant associated with nonsyndromic auditory neuropathy spectrum disorder: mitochondrial dysfunction, cisplatin sensitivity, and amenability to mitochondrial transplantation.
Kim Y et al.
Journal of Translational Medicine, 2025
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
Genetic correction of induced pluripotent stem cells from a DFNA36 patient results in morphologic and functional recovery of derived hair cell-like cells.
Luo Y et al.
Stem Cell Research & Therapy, 2024
Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss.
Joo SY et al.
Journal of Korean Medical Science, 2023
Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations.
Chen C et al.
Journal of Biomedical Science, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.
Magistrati M et al.
International Journal of Molecular Sciences, 2023
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.
Chen C et al.
Human Molecular Genetics, 2022
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations.
Jin X et al.
Investigative Ophthalmology & Visual Science, 2021
Mutational Analysis of Mitochondrial tRNA Genes in 200 Patients with Type 2 Diabetes Mellitus.
Lin L et al.
International Journal of General Medicine, 2021
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Hathazi D et al.
The Embo Journal, 2020
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
Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss.
Zheng J et al.
Mitochondrion, 2020
Screening for mitochondrial 12S rRNA C1494T mutation in 655 patients with non-syndromic hearing loss: An observational study.
Gao Z et al.
Medicine, 2020
Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2020
Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation.
Fan W et al.
The Journal of Biological Chemistry, 2019
Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.
Khatami S et al.
Mitochondrion, 2019
Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family.
Cui Y et al.
Molecular Medicine Reports, 2018
A structural perspective on the PP-loop ATP pyrophosphatase family.
Fellner M et al.
Critical Reviews in Biochemistry and Molecular Biology, 2018
Deletion of Mtu1 (Trmu) in zebrafish revealed the essential role of tRNA modification in mitochondrial biogenesis and hearing function.
Zhang Q et al.
Nucleic Acids Research, 2018
Analysis of mitochondrial A1555G mutation in infants with hearing impairment.
Wu L et al.
Experimental and Therapeutic Medicine, 2018
Contribution of the tRNAIle 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation.
Meng F et al.
The Journal of Biological Chemistry, 2018
Mitochondrial diseases caused by mtDNA mutations: a mini-review.
Ryzhkova AI et al.
Therapeutics and Clinical Risk Management, 2018
The Mitochondrial COI/tRNASER(UCN) G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family.
Y D et al.
Balkan Journal of Medical Genetics : Bjmg, 2017
Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.
Meng F et al.
The Journal of Biological Chemistry, 2017
Mitochondrial COI/tRNASer(UCN) G7444A mutation may be associated with hearing impairment in a Han Chinese family.
Ding Y et al.
International Journal of Clinical and Experimental Pathology, 2017
Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.
Subathra M et al.
Annals of Human Genetics, 2016
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
Reversible infantile mitochondrial diseases.
Boczonadi V et al.
Journal of Inherited Metabolic Disease, 2015
The role of mitochondrial tRNAPhe C628T variant in deafness expression.
Zhu Q et al.
Mitochondrial Dna, 2015
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Preeprem T et al.
Biodata Mining, 2013
Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families.
Wei Q et al.
International Journal of Audiology, 2013
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.
Gaignard P et al.
Jimd Reports, 2013
The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.
Chen H et al.
European Journal of Human Genetics : Ejhg, 2012
Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study.
Rahman S et al.
Bmj Open, 2012
'Progress' renders detrimental an ancient mitochondrial DNA genetic variant.
Pacheu-Grau D et al.
Human Molecular Genetics, 2011
Critical reassessment of a five-generation Chinese family carrying deafness-associated mitochondrial 1555A>G mutation.
Ding Y et al.
Acta Oto-laryngologica, 2011
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
Uusimaa J et al.
Journal of Medical Genetics, 2011
Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.
Yan X et al.
Journal of Medical Genetics, 2011
Human diseases with impaired mitochondrial protein synthesis.
Rötig A
Biochimica Et Biophysica Acta, 2011
Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity.
Guan MX
Mitochondrion, 2011