Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules

(2017) Sofia Zaganelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances

(2017) Sarah F. Pearce et al.   TRENDS IN BIOCHEMICAL SCIENCES

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

(2016) Metodi D. Metodiev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The process of mammalian mitochondrial protein synthesis

(2016) Nicole Mai et al.   CELL AND TISSUE RESEARCH

A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability

(2016) Hana Antonicka et al.   EMBO REPORTS

Stroke-like episodes, peri-episodic seizures, and MELAS mutations

(2016) Josef Finsterer et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The phenotypic spectrum of fifty Czech m.3243A>G carriers

(2016) V. Dvorakova et al.   MOLECULAR GENETICS AND METABOLISM

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

(2016) Eszter Dombi et al.   NEUROLOGY

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

TRNT1 deficiency: clinical, biochemical and molecular genetic features

(2016) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

(2016) Lindsey Van Haute et al.   Nature Communications

Mitochondrial 16S rRNA Is Methylated by tRNA Methyltransferase TRMT61B in All Vertebrates

(2016) Dan Bar-Yaacov et al.   PLOS BIOLOGY

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

(2015) Christopher A. Powell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial transcript maturation and its disorders

(2015) Lindsey Van Haute et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

(2015) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease

(2015) Christopher A. Powell et al.   Frontiers in Genetics

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

(2014) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

(2014) P. K. Chakraborty et al.   BLOOD

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts

(2014) Andrea J. Deutschmann et al.   HUMAN MOLECULAR GENETICS

Mitochondria: Impaired mitochondrial translation in human disease

(2014) Veronika Boczonadi et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Assignment of 2′-O-Methyltransferases to Modification Sites on the Mammalian Mitochondrial Large Subunit 16 S Ribosomal RNA (rRNA)

(2014) Ken-Wing Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome

(2014) Joanna Rorbach et al.   MOLECULAR BIOLOGY OF THE CELL

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs

(2014) T. Suzuki et al.   NUCLEIC ACIDS RESEARCH

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

(2014) John W. Yarham et al.   PLoS Genetics

NSUN4 Is a Dual Function Mitochondrial Protein Required for Both Methylation of 12S rRNA and Coordination of Mitoribosomal Assembly

(2014) Metodi Dimitrov Metodiev et al.   PLoS Genetics

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

(2013) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondria: Mitochondrial RNA metabolism and human disease

(2013) Thomas J. Nicholls et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial encephalomyopathies--Fifty years on: The Robert Wartenberg Lecture

(2013) S. DiMauro   NEUROLOGY

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

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

(2011) Alexandra Götz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

(2011) Elena J. Tucker et al.   Cell Metabolism

Atypical clinical presentations of the A3243G mutation, usually associated with MELAS

(2011) S. Blum et al.   INTERNAL MEDICINE JOURNAL

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

(2011) F.-G. Debray et al.   JOURNAL OF MEDICAL GENETICS

MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation

(2010) Barbara S. Connolly et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

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

Methylation of 12S rRNA Is Necessary for In Vivo Stability of the Small Subunit of the Mammalian Mitochondrial Ribosome

(2009) Metodi D. Metodiev et al.   Cell Metabolism

Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants

(2009) Enrico Baruffini et al.   MITOCHONDRION

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Protein structure homology modeling using SWISS-MODEL workspace

(2009) Lorenza Bordoli et al.   Nature Protocols

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

Myotoxicity of Lipid-Lowering Agents in a Teenager With MELAS Mutation

(2008) Stacey K.H. Tay et al.   PEDIATRIC NEUROLOGY