(Q24296457)

succinate dehydrogenase (ubiquinone) activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

mitochondrial disease

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hanka Venselaar

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Marion Antoine

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Richard J Rodenburg

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Saskia B Wortmann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Roel J Smeets

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Gepke Visser

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Tawfeg Ben-Omran

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Henri J L M Timmers

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jan A Smeitink

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Lambert P van den Heuvel

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

1 June 2020

language of work or name

English

0 references

publication date

February 2015

0 references

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

202-209

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

1 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Subacute necrotizing encephalomyelopathy in an infant

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Mutation and cancer: statistical study of retinoblastoma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Biochemical diagnosis of mitochondrial disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Crystal structure of mitochondrial respiratory membrane protein complex II

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

27 September 2017

SDH mutations in cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate 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=4297908

SDHA is a tumor suppressor gene causing paraganglioma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Gastrointestinal stromal tumour.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Some practical aspects of providing a diagnostic service for respiratory chain defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Blue Native electrophoresis to study mitochondrial and other protein complexes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297908

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

27 September 2017

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.80

Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.80

Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.80

Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.80

Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.80

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.80

A distinct pediatric-type gastrointestinal stromal tumor in adults: potential role of succinate dehydrogenase subunit A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.80

Complex II deficiency--a case report and review of the literature

21 January 2018

1 reference

12 December 2020

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

1 reference

12 December 2020

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

1 reference

12 December 2020

Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia

1 reference

12 December 2020

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

1 reference

12 December 2020

Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors

1 reference

12 December 2020

SDHA Immunohistochemistry Detects GermlineSDHAGene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24781757%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

24781757

1 reference