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Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.

Abstract:

Mutations in the gene encoding the Krebs cycle enzyme fumarate hydratase (FH) predispose to hereditary leiomyomatosis and renal cell cancer in affected individuals. FH-associated neoplasia is characterized by defective mitochondrial function and by upregulation of transcriptional pathways mediated by hypoxia-inducible factor (HIF), although whether and by what means these processes are linked has been disputed. We analysed the HIF pathway in Fh1-/- mouse embryonic fibroblasts (MEFs), in FH-de...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddq305

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Journal:
Human molecular genetics
Volume:
19
Issue:
19
Pages:
3844-3851
Publication date:
2010-10-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:ebec44f9-fc5b-4dcd-85ee-0b5f42322b3e
Source identifiers:
65918
Local pid:
pubs:65918

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