SDH mutations in cancer

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SDH mutations in cancer. / Bardella, Chiara; Pollard, Patrick J; Tomlinson, Ian.

In: Biochimica et Biophysica Acta, Vol. 1807, No. 11, 11.2011, p. 1432-43.

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Bardella, Chiara ; Pollard, Patrick J ; Tomlinson, Ian. / SDH mutations in cancer. In: Biochimica et Biophysica Acta. 2011 ; Vol. 1807, No. 11. pp. 1432-43.

Bibtex

@article{e3aaddd5228d462d9a20a600aaedf4f4,
title = "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 function of SDH in cellular energy metabolism it is important to understand its role in tumor suppression. Here is reported an overview of genetics, clinical and molecular progress recently performed in understanding the basis of HPGL/PCC tumorigenesis.",
keywords = "Animals, Genes, Tumor Suppressor, Humans, Isoenzymes/chemistry, Mitochondria/enzymology, Mutation, Neoplasms/enzymology, Protein Subunits/chemistry, Succinate Dehydrogenase/chemistry",
author = "Chiara Bardella and Pollard, {Patrick J} and Ian Tomlinson",
note = "Under an Elsevier user licence",
year = "2011",
month = nov,
doi = "10.1016/j.bbabio.2011.07.003",
language = "English",
volume = "1807",
pages = "1432--43",
journal = "Biochimica et Biophysica Acta",
issn = "1874-9399",
publisher = "Elsevier",
number = "11",

}

RIS

TY - JOUR

T1 - SDH mutations in cancer

AU - Bardella, Chiara

AU - Pollard, Patrick J

AU - Tomlinson, Ian

N1 - Under an Elsevier user licence

PY - 2011/11

Y1 - 2011/11

N2 - 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 function of SDH in cellular energy metabolism it is important to understand its role in tumor suppression. Here is reported an overview of genetics, clinical and molecular progress recently performed in understanding the basis of HPGL/PCC tumorigenesis.

AB - 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 function of SDH in cellular energy metabolism it is important to understand its role in tumor suppression. Here is reported an overview of genetics, clinical and molecular progress recently performed in understanding the basis of HPGL/PCC tumorigenesis.

KW - Animals

KW - Genes, Tumor Suppressor

KW - Humans

KW - Isoenzymes/chemistry

KW - Mitochondria/enzymology

KW - Mutation

KW - Neoplasms/enzymology

KW - Protein Subunits/chemistry

KW - Succinate Dehydrogenase/chemistry

U2 - 10.1016/j.bbabio.2011.07.003

DO - 10.1016/j.bbabio.2011.07.003

M3 - Review article

C2 - 21771581

VL - 1807

SP - 1432

EP - 1443

JO - Biochimica et Biophysica Acta

JF - Biochimica et Biophysica Acta

SN - 1874-9399

IS - 11

ER -