Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7 (Q56592348)

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2 February 2020

title

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7 (English)

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1

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Simon Edvardson

2

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2 February 2020

Chaim Jalas

7

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author name string

Avraham Shaag

3

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Reeval Segel

5

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Chaya Miller

6

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Orly Elpeleg

8

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2 February 2020

Wendy K Chung

4

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publication date

24 May 2011

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Journal of Inherited Metabolic Disease

2 February 2020

published in

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volume

35

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page(s)

125-131

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issue

1

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9348-y

2 February 2020

exact match

0 references

cites work

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Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

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Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

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FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

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Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

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C6ORF66 is an assembly factor of mitochondrial complex I

21 January 2018

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Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

21 January 2018

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Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

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IAP antagonists target cIAP1 to induce TNFalpha-dependent apoptosis

21 January 2018

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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

21 January 2018

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Antibiotic effects on mitochondrial translation and in patients with mitochondrial translational defects

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PubMed

https://pubmed.ncbi.nlm.nih.gov/21607760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21607760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-011-9348-Y

1 reference

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2 February 2020

1 reference