(Q48487925)

12 February 2018

title

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. (English)

1 reference

12 February 2018

main subject

mitochondrial disease

1 reference

4

Jan-Willem Taanman

1 reference

12 February 2018

Alistair T Pagnamenta

1

1 reference

12 February 2018

Iain P Hargreaves

2

1 reference

12 February 2018

Andrew J Duncan

3

1 reference

12 February 2018

Simon J Heales

5

1 reference

12 February 2018

John M Land

6

1 reference

12 February 2018

Maria Bitner-Glindzicz

7

1 reference

12 February 2018

James V Leonard

8

1 reference

12 February 2018

Shamima Rahman

9

1 reference

12 February 2018

publication date

23 June 2006

1 reference

12 February 2018

Molecular Genetics and Metabolism

published in

1 reference

12 February 2018

volume

89

1 reference

12 February 2018

issue

3

1 reference

12 February 2018

page(s)

214-221

1 reference

12 February 2018

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Development and evaluation of a spectrophotometric assay for complex III in isolated mitochondria, tissues and fibroblasts from rats and humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Crystal structure of mitochondrial respiratory membrane protein complex II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Modifier genes convert "simple" Mendelian disorders to complex traits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Direct evidence for two distinct forms of the flavoprotein subunit of human mitochondrial complex II (succinate-ubiquinone reductase).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Monogenic traits are not simple: lessons from phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Mitochondrial tumour suppressors: a genetic and biochemical update

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

Single-gene disorders: what role could moonlighting enzymes play?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.05.003

10.1016/J.YMGME.2006.05.003

7 January 2021

Identifiers

DOI

1 reference

12 February 2018

PubMed ID

16798039

1 reference

12 February 2018