SDHA is a tumor suppressor gene causing paraganglioma (Q33980332)

30 July 2017

title

SDHA is a tumor suppressor gene causing paraganglioma (English)

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30 July 2017

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12

Jérôme Bertherat

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Judith Favier

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object named as

Judith Favier

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30 July 2017

8

Xavier Jeunemaitre

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Anne-Paule Gimenez-Roqueplo

30 July 2017

Rossella Libé

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object named as

Anne-Paule Gimenez-Roqueplo

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author name string

Nelly Burnichon

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30 July 2017

Jean-Jacques Brière

2

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30 July 2017

Laure Vescovo

4

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30 July 2017

Julie Rivière

5

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30 July 2017

Frédérique Tissier

6

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30 July 2017

Elodie Jouanno

7

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30 July 2017

Paule Bénit

9

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30 July 2017

Alexander Tzagoloff

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30 July 2017

Pierre Rustin

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30 July 2017

publication date

18 May 2010

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30 July 2017

published in

Human Molecular Genetics

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30 July 2017

volume

19

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30 July 2017

issue

15

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30 July 2017

page(s)

3011-3020

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SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

30 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

The Warburg effect is genetically determined in inherited pheochromocytomas

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Loss of the SdhB, but Not the SdhA, subunit of complex II triggers reactive oxygen species-dependent hypoxia-inducible factor activation and tumorigenesis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Mitochondrial tumour suppressors: a genetic and biochemical update

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Crystal structure of mitochondrial respiratory membrane protein complex II

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Aconitase couples metabolic regulation to mitochondrial DNA maintenance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Direct evidence for expression of type II flavoprotein subunit in human complex II (succinate-ubiquinone reductase).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Architecture of succinate dehydrogenase and reactive oxygen species generation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Losses of chromosomes 1p and 3q are early genetic events in the development of sporadic pheochromocytomas

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Yeast/E. coli shuttle vectors with multiple unique restriction sites

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

High-expression vectors with multiple cloning sites for construction of trpE fusion genes: pATH vectors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901140

Genetic testing in pheochromocytoma or functional paraganglioma

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

Direct evidence for two distinct forms of the flavoprotein subunit of human mitochondrial complex II (succinate-ubiquinone reductase).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

Redox stress is not essential for the pseudo-hypoxic phenotype of succinate dehydrogenase deficient cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

CGH and CD 44/MIB-1 immunohistochemistry are helpful to distinguish metastasized from nonmetastasized sporadic pheochromocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

Comparative genomic hybridization reveals frequent losses of chromosomes 1p and 3q in pheochromocytomas and abdominal paragangliomas, suggesting a common genetic etiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

[12] One-step gene disruption in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

Cloning and expression pattern of EPAS1 in the chicken embryo. Colocalization with tyrosine hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

Purification of Saccharomcyes cerevisiae Mitochondria Devoid of Microsomal and Cytosolic Contaminations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ206

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

21 January 2018

1 reference

12 December 2020

Three spectrophotometric assays for the measurement of the five respiratory chain complexes in minuscule biological samples

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

One-step gene disruption in yeast

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ206

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30 July 2017

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30 July 2017

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