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Article

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

The Journal of clinical endocrinology and metabolism - 1 Oct 2002

Gimenez-Roqueplo Anne-Paule, Favier Judith, Rustin Pierre, Rieubland Claudine, Kerlan Véronique, Plouin Pierre-François, Rötig Agnès, Jeunemaitre Xavier

Abstract excerpt

Three genes encoding for mitochondrial complex II proteins are linked to hereditary paraganglioma. We have recently shown that an inactivation of the SDHD gene is associated with a complete loss of mitochondrial complex II activity and a stimulation of the angiogenic pathway (Gimenez-Roqueplo, A. P., J. Favier, P. Rustin, J. J. Mourad, P. F. Plouin, P. Corvol, A. Rötig, and X. Jeunemaitre, 2001, Am J Hum Genet...

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Share to Adrenal Gland Neoplasms
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12364472
DOI: 10.1210/jc.2002-020525

Genes

SDHB
SDHD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.PMID 12364472Read ↗

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SDHA is a tumor suppressor gene causing paraganglioma.Semantic proximity Read ↗

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An Alu-mediated partial SDHC deletion causes familial and sporadic paragangliomaSemantic proximity Read ↗

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.Semantic proximity Read ↗

SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas.Semantic proximity Read ↗

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<i>SDHD</i> mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphologySemantic proximity Read ↗

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