(Q44768692)

English

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

scientific article published in January 2004

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scholarly article

1 reference

Europe PubMed Central

6 December 2017

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? (English)

1 reference

Europe PubMed Central

6 December 2017

1 reference

based on heuristic

inferred from title

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hypertrophic cardiomyopathy

1 reference

based on heuristic

inferred from title

object named as

R Horvath

2

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author name string

P Freisinger

1

1 reference

Europe PubMed Central

6 December 2017

C Macmillan

3

1 reference

Europe PubMed Central

6 December 2017

J Peters

4

1 reference

Europe PubMed Central

6 December 2017

M Jaksch

5

1 reference

Europe PubMed Central

6 December 2017

publication date

1 January 2004

1 reference

Europe PubMed Central

6 December 2017

Journal of Inherited Metabolic Disease

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Europe PubMed Central

6 December 2017

27

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Europe PubMed Central

6 December 2017

1

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Europe PubMed Central

6 December 2017

67-79

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Europe PubMed Central

6 December 2017

https://scigraph.springernature.com/pub.10.1023/b:boli.0000016614.47380.2f

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Epidemiology and treatment of mitochondrial disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A delicate balance: homeostatic control of copper uptake and distribution

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

2 references

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000016614.47380.2F

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome c oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copper chaperones for cytochrome c oxidase and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copper histidinate therapy in Menkes' disease: prevention of progressive neurodegeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pediatric myocardial disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation screening in patients with isolated cytochrome c oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Separation of Cu(II)-amino acid complexes and evidence for the existence of histidine-Cu(II)-glutamine and histidine-Cu(II)-serume complexes at physiological pH

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/14970747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/B:BOLI.0000016614.47380.2F

1 reference

Europe PubMed Central

6 December 2017

Dimensions Publication ID

0 references

release_s6b6vm43xfhzngtbz743zu3gka

1 reference

https://api.fatcat.wiki/v0/release/s6b6vm43xfhzngtbz743zu3gka

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

6 December 2017

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