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Journal article

SDH mutations in cancer.

Abstract:

The SDHA, SDHB, SDHC, SDHD genes encode the four subunits of succinate dehydrogenase (SDH; mitochondrial complex II), a mitochondrial enzyme involved in two essential energy-producing metabolic processes of the cell, the Krebs cycle and the electron transport chain. Germline loss-of-function mutations in any of the SDH genes or assembly factor (SDHAF2) cause hereditary paraganglioma/phaeochromocytoma syndrome (HPGL/PCC) through a mechanism which is largely unknown. Owing to the central functi...

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Publication status:
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Authors


Bardella, C More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Journal:
Biochimica et biophysica acta
Volume:
1807
Issue:
11
Pages:
1432-1443
Publication date:
2011-11-05
DOI:
ISSN:
0006-3002
URN:
uuid:31699e6b-a1f6-484a-80be-1b09a7a20877
Source identifiers:
166448
Local pid:
pubs:166448

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