Associated Papers
Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.
Antolínez-Fernández Á et al.
Frontiers in Cell and Developmental Biology, 2024
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.
Mazzaccara C et al.
International Journal of Molecular Sciences, 2021
Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency.
Zhang Q et al.
Nucleic Acids Research, 2021
Genetics of Postlingual Sensorineural Hearing Loss.
Ahmadmehrabi S et al.
The Laryngoscope, 2021
A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation.
Meng F et al.
Nucleic Acids Research, 2021
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
FAM46 proteins are novel eukaryotic non-canonical poly(A) polymerases.
Kuchta K et al.
Nucleic Acids Research, 2016
MTO1 worked as a modifier in the aminoglycosides sensitivity of yeast carrying a mitochondrial 15S rRNA C1477G mutation.
Zhu X et al.
Plos One, 2015
Mechanistic study on the nuclear modifier gene MSS1 mutation suppressing neomycin sensitivity of the mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.
Zhou Q et al.
Plos One, 2014
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.
Boczonadi V et al.
Human Molecular Genetics, 2013
Nuclear modifier MTO2 modulates the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.
He X et al.
Plos One, 2013
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
Ghezzi D et al.
American Journal of Human Genetics, 2012
[Mutations in mitochondrial DNA associated with hypertension].
Xue L et al.
Yi Chuan = Hereditas, 2011
[Clinical features of patients with pulmonary artery hypertension associated with hereditary hemorrhagic telangiectasia].
Lu JG et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2011
[Association between rs4149601 polymorphism and essential hypertension in Kazakh].
Wang HM et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2010
Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
de Moraes VC et al.
Biochemical and Biophysical Research Communications, 2009
Frequency of mitochondrial 12S ribosomal RNA variants in an adult cystic fibrosis population.
Conrad DJ et al.
Pharmacogenetics and Genomics, 2008
Mitochondrial deafness alleles confer misreading of the genetic code.
Hobbie SN et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.
Otaegui D et al.
Audiology & Neuro-otology, 2008
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
Lévêque M et al.
European Journal of Human Genetics : Ejhg, 2007
Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.
Scaglia F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
[Electrophysiological characterization of long QT syndrome associated mutations V630A and N633S].
She HR et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2006
[Gene mutations and dilated cardiomyopathy].
Wang H et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2006
Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness.
Zhang HJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005
Skeletal muscle gene expression profiling in mitochondrial disorders.
Crimi M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2005
The structure of the TrmE GTP-binding protein and its implications for tRNA modification.
Scrima A et al.
The Embo Journal, 2005
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.
Bykhovskaya Y et al.
Molecular Genetics and Metabolism, 2004
Disorders of mitochondrial protein synthesis.
Jacobs HT
Human Molecular Genetics, 2003
Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification.
Li R et al.
Biochimica Et Biophysica Acta, 2003
Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation.
Finnilä S et al.
European Journal of Human Genetics : Ejhg, 2003
Modifier genes and protective alleles in humans and mice.
Nadeau JH
Current Opinion in Genetics & Development, 2003
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.
del Castillo FJ et al.
Journal of Medical Genetics, 2002
A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation.
Li X et al.
Molecular and Cellular Biology, 2002
Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation.
Li X et al.
The Journal of Biological Chemistry, 2002
Deafness genes and their diagnostic applications.
Cryns K et al.
Audiology & Neuro-otology, 0