Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

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

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

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets

(2012) Kamil S. Sitarz et al.   Current Neurology and Neuroscience Reports

Plasma thiol status is altered in children with mitochondrial diseases

(2012) Heli Salmi et al.   SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION

Mechanisms of mitochondrial diseases

(2011) Emil Ylikallio et al.   ANNALS OF MEDICINE

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

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

(2011) J. Uusimaa et al.   JOURNAL OF MEDICAL GENETICS

Reversible infantile respiratory chain deficiency: A clinical and molecular study

(2010) Masakazu Mimaki et al.   ANNALS OF NEUROLOGY

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

(2010) John P. Kemp et al.   BRAIN

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

(2010) Ulrike Schara et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

(2010) Carlo Viscomi et al.   NATURE MEDICINE

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

(2010) Z.M.A. Chrzanowska-Lightowlers et al.   NEUROMUSCULAR DISORDERS

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

(2009) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

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

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

(2009) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

Mechanistic characterization of the sulfur-relay system for eukaryotic 2-thiouridine biogenesis at tRNA wobble positions

(2009) Akiko Noma et al.   NUCLEIC ACIDS RESEARCH