(Q34084052)

30 July 2017

title

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy (English)

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30 July 2017

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ChEBI release 2020-05-28

9

Ronald J A Wanders

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30 July 2017

12

Hans R Waterham

1 reference

30 July 2017

Johan L K Van Hove

1

1 reference

30 July 2017

Margarita S Saenz

2

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30 July 2017

Janet A Thomas

3

1 reference

30 July 2017

Renata C Gallagher

4

1 reference

30 July 2017

Mark A Lovell

5

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30 July 2017

Laura Z Fenton

6

1 reference

30 July 2017

Sarah Shanske

7

1 reference

30 July 2017

Sommer M Myers

8

1 reference

30 July 2017

Jos Ruiter

10

1 reference

30 July 2017

Marjolein Turkenburg

11

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30 July 2017

language of work or name

English

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publication date

1 August 2010

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30 July 2017

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30 July 2017

volume

68

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30 July 2017

issue

2

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30 July 2017

page(s)

159-164

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Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Detection of mutations in mtDNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Depletion of mtDNA: syndromes and genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Early nonsense: mRNA decay solves a translational problem

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Aberrant termination triggers nonsense-mediated mRNA decay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Deoxyribonucleotides and disorders of mitochondrial DNA integrity.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Characterization of the ATP- and GTP-specific succinyl-CoA synthetases in pigeon. The enzymes incorporate the same alpha-subunit

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Computational method to predict mitochondrially imported proteins and their targeting sequences

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928220

Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues

28 July 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181E5C3A4

Succinyl-CoA synthetase is a phosphate target for the activation of mitochondrial metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181E5C3A4

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181E5C3A4

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181E5C3A4

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181E5C3A4

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181E5C3A4

An internal open reading frame triggers nonsense-mediated decay of the yeast SPT10 mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3181E5C3A4

10.1203/PDR.0B013E3181E5C3A4

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

30 July 2017

0 references

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30 July 2017

1 reference