MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

(2012) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

(2012) F. Invernizzi et al.   MITOCHONDRION

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

(2012) Valeria Vasta et al.   PEDIATRICS INTERNATIONAL

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

(2011) Tsutomu Suzuki et al.   Annual Review of Genetics

Human diseases with impaired mitochondrial protein synthesis

(2011) Agnès Rötig   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

(2011) F. Sasarman et al.   HUMAN MOLECULAR GENETICS

Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients

(2009) Roza Kucharczyk et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Synthesis of cytochrome c oxidase subunit 1 is translationally downregulated in the absence of functional F1F0-ATP synthase

(2009) Ileana C. Soto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

(2009) P. Goffrini et al.   HUMAN MOLECULAR GENETICS

Structure-Function Analysis of Escherichia coli MnmG (GidA), a Highly Conserved tRNA-Modifying Enzyme

(2009) R. Shi et al.   JOURNAL OF BACTERIOLOGY

Combination of the Loss of cmnm5U34 with the Lack of s2U34 Modifications of tRNALys, tRNAGlu, and tRNAGln Altered Mitochondrial Biogenesis and Respiration

(2009) Xinjian Wang et al.   JOURNAL OF MOLECULAR BIOLOGY

Down-regulation of CXCR4 expression by SDF-KDEL in CD34+ hematopoietic stem cells: An anti-human immunodeficiency virus strategy

(2009) Jiu-Cong Zhang et al.   JOURNAL OF VIROLOGICAL METHODS

Conserved Cysteine Residues of GidA Are Essential for Biogenesis of 5-Carboxymethylaminomethyluridine at tRNA Anticodon

(2009) Takuo Osawa et al.   STRUCTURE

Modified Uridines with C5-methylene Substituents at the First Position of the tRNA Anticodon Stabilize U·G Wobble Pairing during Decoding

(2008) Shinya Kurata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Crystal Structures of the Conserved tRNA-Modifying Enzyme GidA: Implications for Its Interaction with MnmE and Substrate

(2008) S. Meyer et al.   JOURNAL OF MOLECULAR BIOLOGY

Sequence-structure-function analysis of the bifunctional enzyme MnmC that catalyses the last two steps in the biosynthesis of hypermodified nucleoside mnm5s2U in tRNA

(2008) Martine Roovers et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS