A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability (Q24300577)

GOA release 2020-03-11

Richard J Rodenburg

7

0 references

Martijn A Huynen

Martijn A Huynen

15

0 references

Lambert P van den Heuvel

13

Lambert van den Heuvel

0 references

Leo G J Nijtmans

14

Leo G Nijtmans

0 references

Mariël A M van den Brand

3

Mariël A M van den Brand

0 references

Radek Szklarczyk

2

Radek Szklarczyk

0 references

Roel J P Smeets

6

Roel Smeets

0 references

author name string

Bas F J Wanschers

1

0 references

An Jonckheere

4

0 references

Janneke Suijskens

5

0 references

Katharina Stephan

8

0 references

Ingrid B Helland

9

0 references

Areej Elkamil

10

0 references

Terje Rootwelt

11

0 references

Martin Ott

The genetics and pathology of oxidative phosphorylation

12

0 references

language of work or name

English

0 references

publication date

1 December 2014

0 references

published in

Human Molecular Genetics

0 references

volume

23

0 references

page(s)

6356-65

0 references

issue

23

0 references

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Molecular genetic and clinical aspects of mitochondrial disorders in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Mitochondrial disorders as windows into an ancient organelle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Biogenesis of the cytochrome bc(1) complex and role of assembly factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Cbp3-Cbp6 interacts with the yeast mitochondrial ribosomal tunnel exit and promotes cytochrome b synthesis and assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

The HHpred interactive server for protein homology detection and structure prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Database resources of the National Center for Biotechnology Information

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Respiratory complex III is required to maintain complex I in mammalian mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Computational method to predict mitochondrially imported proteins and their targeting sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Locating proteins in the cell using TargetP, SignalP and related tools

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

The Cbp3-Cbp6 complex coordinates cytochrome b synthesis with bc(1) complex assembly in yeast mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Assembly factors monitor sequential hemylation of cytochrome b to regulate mitochondrial translation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Biochemical diagnosis of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Human mitochondrial complex I assembly is mediated by NDUFAF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Human Dna2 is a nuclear and mitochondrial DNA maintenance protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Electrophoresis techniques to investigate defects in oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

siRNA Selection Server: an automated siRNA oligonucleotide prediction server

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

7 January 2021

Tissue- and cell-specific distribution of creatine kinase B: a new and highly specific monoclonal antibody for use in immunohistochemistry

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

7 January 2021

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

7 January 2021

Clinical heterogeneity in respiratory chain complex III deficiency in childhood

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

7 January 2021

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU357

7 January 2021