(Q45969330)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

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

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

mitochondrial DNA

0 references

author name string

Elsebet Ostergaard

1

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

Marianne Schwartz

2

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

Mustafa Batbayli

3

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

Ernst Christensen

4

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

Ola Hjalmarson

5

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

Gittan Kollberg

6

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

Elisabeth Holme

7

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

publication date

14 June 2009

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

169

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

2

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

201-205

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

describes a project that uses

mitochondrial DNA

1 reference

based on heuristic

inferred from title

https://scigraph.springernature.com/pub.10.1007/s00431-009-1007-z

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reconsideration of the significance of substrate-level phosphorylation in the citric acid cycle*

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-resolution melting curve analysis of genomic and whole-genome amplified DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19526370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-009-1007-Z

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/19526370

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q45969330&oldid=1878860091"