Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency (Q34388122)

1 August 2017

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

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1 August 2017

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17

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1 August 2017

R Carrozzo

3

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Carlo Dionisi-Vici

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C Dionisi-Vici

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Enrico Bertini

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E Bertini

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author name string

K Hoertnagel

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1 August 2017

C Galimberti

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1 August 2017

M Munaro

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1 August 2017

M Granatiero

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1 August 2017

L Zelante

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1 August 2017

P Gasparini

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1 August 2017

R Marzella

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1 August 2017

M Rocchi

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1 August 2017

M P Bayona-Bafaluy

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1 August 2017

J A Enriquez

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1 August 2017

G Uziel

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1 August 2017

B Franco

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1 August 2017

M Zeviani

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1 August 2017

language of work or name

English

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publication date

1 December 1998

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American Journal of Human Genetics

1 August 2017

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1 August 2017

63

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1 August 2017

1609-1621

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1 August 2017

6

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Protein measurement with the Folin phenol reagent

1 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Human cytochrome c oxidase: structure, function, and deficiency.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Nuclear genes for cytochrome c oxidase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Neurological presentations of mitochondrial diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Dual Alu polymerase chain reaction primers and conditions for isolation of human chromosome painting probes from hybrid cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Sequence and gene organization of mouse mitochondrial DNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Sequence and organization of the human mitochondrial genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Strategies for multilocus linkage analysis in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Mitochondrial DNA of two independent oligomycin-resistant Chinese hamster ovary cell lines contains a single nucleotide change in the ATPase 6 gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

A human chromosome 9-specific alphoid DNA repeat spatially resolvable from satellite 3 DNA by fluorescent in situ hybridization.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

A knowledge base for predicting protein localization sites in eukaryotic cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Oxygen activation and the conservation of energy in cell respiration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377632

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MitoProt, a Macintosh application for studying mitochondrial proteins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302150

1 reference

1 August 2017

1 reference

1 August 2017

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