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

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

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

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

(2009) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

(2009) Tracy Tucker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for an Active Role of IF3mtin the Initiation of Translation in Mammalian Mitochondria†

(2009) Brooke E. Christian et al.   BIOCHEMISTRY

The MTERF family proteins: Mitochondrial transcription regulators and beyond

(2009) Marina Roberti et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

MTERF2 is a nucleoid component in mammalian mitochondria

(2009) Mina Pellegrini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu·GTP·aa-tRNA ternary complex

(2009) Lucia Valente et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Association of LETM1 and MRPL36 Contributes to the Regulation of Mitochondrial ATP Production and Necrotic Cell Death

(2009) L. Piao et al.   CANCER RESEARCH

Heavy Breathing: Energy Conversion by Mitochondrial Respiratory Supercomplexes

(2009) Eric A. Schon et al.   Cell Metabolism

RETRACTED: mTERF2 Regulates Oxidative Phosphorylation by Modulating mtDNA Transcription

(2009) Tina Wenz et al.   Cell Metabolism

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

Disorders of mitochondrial function

(2009) François-Guillaume Debray et al.   CURRENT OPINION IN PEDIATRICS

Mapping of theSaccharomyces cerevisiaeOxa1-Mitochondrial Ribosome Interface and Identification of MrpL40, a Ribosomal Protein in Close Proximity to Oxa1 and Critical for Oxidative Phosphorylation Complex Assembly

(2009) Lixia Jia et al.   EUKARYOTIC CELL

cAMP response element-binding protein (CREB) is imported into mitochondria and promotes protein synthesis

(2009) Domenico De Rasmo et al.   FEBS Journal

Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation

(2009) Stefan M.K. Davies et al.   FEBS LETTERS

Baculovirus complementation restores a novelNDUFAF2mutation causing complex I deficiency

(2009) Saskia J.G. Hoefs et al.   HUMAN MUTATION

Mitochondrial medicine: entering the era of treatment

(2009) S. Koene et al.   JOURNAL OF INTERNAL MEDICINE

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

(2009) P. Isohanni et al.   JOURNAL OF MEDICAL GENETICS

EF-G2mt Is an Exclusive Recycling Factor in Mammalian Mitochondrial Protein Synthesis

(2009) Masafumi Tsuboi et al.   MOLECULAR CELL

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

(2009) Daniele Ghezzi et al.   NATURE GENETICS

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

(2009) Woranontee Weraarpachai et al.   NATURE GENETICS

Next-generation DNA sequencing techniques

(2009) Wilhelm J. Ansorge   New Biotechnology

Mitochondrial Dynamics in Mammalian Health and Disease

(2009) Marc Liesa et al.   PHYSIOLOGICAL REVIEWS

Prohibitin and mitochondrial biology

(2009) Marta Artal-Sanz et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

(2008) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

(2008) Canny Sugiana et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expression and Maintenance of Mitochondrial DNA

(2008) Gerald S. Shadel   AMERICAN JOURNAL OF PATHOLOGY

DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations

(2008) Sherine S.L. Chan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects

(2008) Erika Fernández-Vizarra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Roles of Oxa1-related inner-membrane translocases in assembly of respiratory chain complexes

(2008) Nathalie Bonnefoy et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Mitochondria—A Nexus for Aging, Calorie Restriction, and Sirtuins?

(2008) Leonard Guarente   CELL

Protein Synthesis and Assembly in Mitochondrial Disorders

(2008) Xochitl Perez-Martinez et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

The iron–sulphur protein Ind1 is required for effective complex I assembly

(2008) Katrine Bych et al.   EMBO JOURNAL

Mitochondrial Dysfunction in Type 2 Diabetes and Obesity

(2008) Kurt Højlund et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG

(2008) Yusuke Nozaki et al.   GENES TO CELLS

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2

(2008) F. Sasarman et al.   HUMAN MOLECULAR GENETICS

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

The higher level of organization of the oxidative phosphorylation system: mitochondrial supercomplexes

(2008) Natalya V. Dudkina et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Role of SUV3 Helicase in Maintaining Mitochondrial Homeostasis in Human Cells

(2008) Lily Khidr et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L

(2008) S. Tamai et al.   JOURNAL OF CELL SCIENCE

A Single Mammalian Mitochondrial Translation Initiation Factor Functionally Replaces Two Bacterial Factors

(2008) Rahul Gaur et al.   MOLECULAR CELL

Respiratory Active Mitochondrial Supercomplexes

(2008) Rebeca Acín-Pérez et al.   MOLECULAR CELL

The human mitochondrial ribosome recycling factor is essential for cell viability

(2008) Joanna Rorbach et al.   NUCLEIC ACIDS RESEARCH

Transcriptional Paradigms in Mammalian Mitochondrial Biogenesis and Function

(2008) Richard C. Scarpulla   PHYSIOLOGICAL REVIEWS

Preventing Mitochondrial Fission Impairs Mitochondrial Function and Leads to Loss of Mitochondrial DNA

(2008) Philippe A. Parone et al.   PLoS One

Lack of secondary structure characterizes the 5' ends of mammalian mitochondrial mRNAs

(2008) C. N. Jones et al.   RNA

Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders

(2008) Denise M. Kirby et al.   Twin Research and Human Genetics

Inherited Mitochondrial Diseases of DNA Replication

(2007) William C. Copeland   Annual Review of Medicine

Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease

(2007) Fernando Scaglia et al.   MUSCLE & NERVE