Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion (Q24530876)

4 July 2017

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

1 reference

4 July 2017

0 references

1 reference

Eli Hershkovitz

3

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Ann Saada

Ann Saada

9

0 references

Shamima Rahman

6

Shamima Rahman

1 reference

4 July 2017

Maria Bitner-Glindzicz

4

Maria Bitner-Glindzicz

1 reference

4 July 2017

Alistair T Pagnamenta

7

Alistair Pagnamenta

1 reference

4 July 2017

Orly Elpeleg

1

1 reference

4 July 2017

Chaya Miller

2

1 reference

4 July 2017

Gili Bondi-Rubinstein

5

1 reference

4 July 2017

Sharon Eshhar

8

1 reference

4 July 2017

language of work or name

English

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publication date

22 April 2005

1 reference

American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

volume

76

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4 July 2017

issue

6

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4 July 2017

page(s)

1081-1086

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

4 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=1196446

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

nm23-H4, a new member of the family of human nm23/nucleoside diphosphate kinase genes localised on chromosome 16p13

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

The human nm23-H4 gene product is a mitochondrial nucleoside diphosphate kinase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Aconitase couples metabolic regulation to mitochondrial DNA maintenance

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Guanosine triphosphate, the primary product of phosphorylation coupled to the breakdown of succinyl coenzyme A

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Deoxyribonucleotides and disorders of mitochondrial DNA integrity.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

MitoP2, an integrated database on mitochondrial proteins in yeast and man

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Inherited mitochondrial DNA depletion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

27 September 2017

Moonlighting proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Steady-state kinetics of high molecular weight (type-I) NADH dehydrogenase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Thymidylate nucleotide supply for mitochondrial DNA synthesis in mouse L-cells. Effect of 5-fluorodeoxyuridine and methotrexate in thymidine kinase plus and thymidine kinase minus cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

A computational model of mitochondrial deoxynucleotide metabolism and DNA replication

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Protein components of mitochondrial DNA nucleoids in higher eukaryotes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

Clinical manifestations of mitochondrial DNA depletion

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196446

SUCCINIC THIOKINASE. I. PURIFICATION OF THE ENZYME FROM PIG HEART

29 November 2018

1 reference

12 December 2020

An improved procedure for preparation of inner membrane vesicles from rat liver mitochondria by treatment with digitonin

1 reference

12 December 2020

Succinate thiokinase in pigeon breast muscle mitochondria

1 reference

12 December 2020

Occurrence of two distinct succinate thiokinases in animal tissues

1 reference

12 December 2020

Apparent ATP-linked succinate thiokinase activity and its relation to nucleoside diphosphate kinase in mitochondrial matrix preparations from rabbit

1 reference

12 December 2020

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

1 reference

12 December 2020

Identifiers

DOI

10.1086/430843

1 reference

OpenCitations bibliographic resource ID

4 July 2017

2984440

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference