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

Mitochondria: Mitochondrial RNA metabolism and human disease

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

Lack of tRNA Modification Isopentenyl-A37 Alters mRNA Decoding and Causes Metabolic Deficiencies in Fission Yeast

(2013) T. N. Lamichhane et al.   MOLECULAR AND CELLULAR BIOLOGY

Human Cells Have a Limited Set of tRNA Anticodon Loop Substrates of the tRNA Isopentenyltransferase TRIT1 Tumor Suppressor

(2013) T. N. Lamichhane et al.   MOLECULAR AND CELLULAR BIOLOGY

Mitochondrial aminoacyl-tRNA synthetases in human disease

(2013) Svetlana Konovalova et al.   MOLECULAR GENETICS AND METABOLISM

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

(2013) Cornelia Kornblum et al.   NATURE GENETICS

REXO2 Is an Oligoribonuclease Active in Human Mitochondria

(2013) Francesco Bruni et al.   PLoS One

Monoallelic loss of tumor suppressor GRIM-19 promotes tumorigenesis in mice

(2013) S. Kalakonda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mod5 protein binds to tRNA gene complexes and affects local transcriptional silencing

(2013) M. Pratt-Hyatt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

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

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

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

Plasticity and diversity of tRNA anticodon determinants of substrate recognition by eukaryotic A37 isopentenyltransferases

(2011) T. N. Lamichhane et al.   RNA

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

(2010) Hana Antonicka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

Structural aspects of messenger RNA reading frame maintenance by the ribosome

(2010) Lasse B Jenner et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

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

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Function and biogenesis of iron–sulphur proteins

(2009) Roland Lill   NATURE

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Crystallographic snapshots of eukaryotic dimethylallyltransferase acting on tRNA: Insight into tRNA recognition and reaction mechanism

(2008) C. Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA