Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

(2013) Pauline Gaignard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

(2013) Sze Chern Lim et al.   HUMAN MOLECULAR GENETICS

A Homozygous Mutation inLYRM7/MZM1LAssociated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

(2013) Federica Invernizzi et al.   HUMAN MUTATION

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

(2013) Célia Nogueira et al.   NEUROGENETICS

Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases

(2012) B. Meunier et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Genome-wide association study identified UQCC locus for spine bone size in humans

(2012) Fei-Yan Deng et al.   BONE

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

(2012) Radek Szklarczyk et al.   HUMAN MOLECULAR GENETICS

Mitochondrial Complex III Deficiency Caused by a HomozygousUQCRC2Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

(2012) Noriko Miyake et al.   HUMAN MUTATION

The Cbp3–Cbp6 complex coordinates cytochromebsynthesis withbc1complex assembly in yeast mitochondria

(2012) Steffi Gruschke et al.   JOURNAL OF CELL BIOLOGY

Schizosaccharomyces pombe homologs of the Saccharomyces cerevisiae mitochondrial proteins Cbp6 and Mss51 function at a post-translational step of respiratory complex biogenesis

(2012) Inge Kühl et al.   MITOCHONDRION

Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis

(2012) J. He et al.   NUCLEIC ACIDS RESEARCH

M19 Modulates Skeletal Muscle Differentiation and Insulin Secretion in Pancreatic β-Cells through Modulation of Respiratory Chain Activity

(2012) Linda Cambier et al.   PLoS One

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

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

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

(2012) Radek Szklarczyk et al.   GENOME BIOLOGY

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

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

RNA structure and the mechanisms of alternative splicing

(2011) C Joel McManus et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

(2011) Damien L. Bruno et al.   HUMAN MUTATION

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

(2011) Elena J. Tucker et al.   HUMAN MUTATION

Cbp3–Cbp6 interacts with the yeast mitochondrial ribosomal tunnel exit and promotes cytochromebsynthesis and assembly

(2011) Steffi Gruschke et al.   JOURNAL OF CELL BIOLOGY

Cells Lacking Rieske Iron-Sulfur Protein Have a Reactive Oxygen Species-Associated Decrease in Respiratory Complexes I and IV

(2011) F. Diaz et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

(2011) Daniele Ghezzi et al.   NATURE GENETICS

Genome sequence of the stramenopile Blastocystis, a human anaerobic parasite

(2011) France Denoeud et al.   GENOME BIOLOGY

c-Jun N-terminal kinase/c-Jun inhibits fibroblast proliferation by negatively regulating the levels of stathmin/oncoprotein 18

(2010) Yvonne Y. C. Yeap et al.   BIOCHEMICAL JOURNAL

Biochemical diagnosis of mitochondrial disorders

(2010) Richard J. T. Rodenburg   JOURNAL OF INHERITED METABOLIC DISEASE

Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation

(2010) Heike Kotarsky et al.   MITOCHONDRION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Association of a Novel Mitochondrial Protein M19 with Mitochondrial Nucleoids

(2009) Megumi Sumitani et al.   JOURNAL OF BIOCHEMISTRY

Human Dna2 Is a Nuclear and Mitochondrial DNA Maintenance Protein

(2009) J. P. Duxin et al.   MOLECULAR AND CELLULAR BIOLOGY

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

Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size

(2009) Nicole Soranzo et al.   PLoS Genetics

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

(2008) Ortal Barel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Electrophoresis techniques to investigate defects in oxidative phosphorylation

(2008) Maria Antonietta Calvaruso et al.   METHODS

Common variants in the GDF5-UQCC region are associated with variation in human height

(2008) Serena Sanna et al.   NATURE GENETICS