A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

Assembly factors monitor sequential hemylation of cytochromebto regulate mitochondrial translation

(2014) Markus Hildenbeutel et al.   JOURNAL OF CELL BIOLOGY

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

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

Database resources of the National Center for Biotechnology Information

(2013)   NUCLEIC ACIDS RESEARCH

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

(2013) Elena J. Tucker et al.   PLoS Genetics

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

(2012) Ester Sánchez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Loss, replacement and gain of proteins at the origin of the mitochondria

(2012) Martijn A. Huynen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

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

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

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

Biogenesis of the cytochrome bc1 complex and role of assembly factors

(2011) Pamela M. Smith et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

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

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

Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1

(2011) Matthew McKenzie et al.   JOURNAL OF MOLECULAR BIOLOGY

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

(2011) Daniele Ghezzi et al.   NATURE GENETICS

Biochemical diagnosis of mitochondrial disorders

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

Human Dna2 Is a Nuclear and Mitochondrial DNA Maintenance Protein

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

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

Electrophoresis techniques to investigate defects in oxidative phosphorylation

(2008) Maria Antonietta Calvaruso et al.   METHODS