SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease (Q28118095)

mitochondrial cytochrome c oxidase assembly

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Massimo Zeviani

11

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Daniele Ghezzi

2

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author name string

Andoni Echaniz-Laguna

1

1 reference

4 January 2017

Maïté Chassagne

3

1 reference

4 January 2017

Martine Mayençon

4

1 reference

4 January 2017

Sylvie Padet

5

1 reference

4 January 2017

Laura Melchionda

6

1 reference

4 January 2017

Isabelle Rouvet

7

1 reference

4 January 2017

Béatrice Lannes

8

1 reference

4 January 2017

Dominique Bozon

9

1 reference

4 January 2017

Philippe Latour

10

1 reference

4 January 2017

Bénédicte Mousson de Camaret

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

12

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4 January 2017

language of work or name

English

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publication date

22 October 2013

1 reference

4 January 2017

1 reference

4 January 2017

81

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4 January 2017

1523–1530

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4 January 2017

17

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4 January 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

20 March 2017

1 reference

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Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

20 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

A mutation in the gene encoding mitochondrial Mg²+ channel MRS2 results in demyelination in the rat.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Inherited mitochondrial neuropathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Blue Native electrophoresis to study mitochondrial and other protein complexes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

A SURF1 gene mutation presenting as isolated leukodystrophy.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3888171

Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity

27 November 2018

1 reference

12 December 2020

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

1 reference

12 December 2020

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

1 reference

12 December 2020

Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice

1 reference

12 December 2020

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome

1 reference

12 December 2020

Charcot-Marie-Tooth disease

1 reference

12 December 2020

SURF1-associated Leigh syndrome: a case series and novel mutations

1 reference

12 December 2020