A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency (Q35009121)

5 August 2017

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency (English)

1 reference

5 August 2017

1 reference

3

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5 June 2020

Robert McFarland

8

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Zofia M Chrzanowska-Lightowlers

5 June 2020

9

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5 June 2020

Holger Prokisch

11

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5 June 2020

Robert William Taylor

12

object named as

Robert W Taylor

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5 June 2020

6

Andrew Am Morris

1 reference

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5 June 2020

10

Robert N Lightowlers

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5 June 2020

2

Tobias B Haack

1 reference

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5 June 2020

1

Monika Oláhová

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5 June 2020

author name string

Jessica Ac Houghton

4

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5 June 2020

Langping He

5

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5 June 2020

Garry K Brown

7

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5 June 2020

publication date

8 October 2014

1 reference

European Journal of Human Genetics

5 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25293719%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

23

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5 June 2020

page(s)

935-939

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5 June 2020

issue

7

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Creative Commons Attribution 3.0 Unported

5 June 2020

copyright license

start time

8 October 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.214

0 references

cites work

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

The heme a synthase Cox15 associates with cytochrome c oxidase assembly intermediates during Cox1 maturation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

SURF1 deficiency: a multi-centre natural history study.

8 July 2018

1 reference

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Molecular genetic testing for mitochondrial disease: from one generation to the next

8 July 2018

1 reference

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NDUFA4 is a subunit of complex IV of the mammalian electron transport chain

8 July 2018

1 reference

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

8 July 2018

1 reference

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Inventory control: cytochrome c oxidase assembly regulates mitochondrial translation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

A neurological perspective on mitochondrial disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Prevalence of mitochondrial DNA disease in adults

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Biochemical assays of respiratory chain complex activity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Proton-coupled electron transfer drives the proton pump of cytochrome c oxidase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

A role for Pet100p in the assembly of yeast cytochrome c oxidase: interaction with a subassembly that accumulates in a pet100 mutant.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Subacute necrotizing encephalomyelopathy in an infant

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Structure and function of Pet100p, a molecular chaperone required for the assembly of cytochrome c oxidase in Saccharomyces cerevisiae.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

Cloning and characterization of PET100, a gene required for the assembly of yeast cytochrome c oxidase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4305338

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

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.214

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.214

Cellular internalization and degradation of antithrombin III-thrombin, heparin cofactor II-thrombin, and alpha 1-antitrypsin-trypsin complexes is mediated by the low density lipoprotein receptor-related protein

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.214

21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25293719%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 June 2020

0 references

1 reference

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5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25293719%20AND%20SRC:MED&resulttype=core&format=json