A common pathway for genetic events leading to pheochromocytoma.
Mutations in VHL, RET, NF1, SDHB, SDHC, and SDHD can give rise to pheochromocytoma/paraganglioma. These different genetic lesions may all act by decreasing the activity of a 2-oxoglutarate-dependent oxygenase, SM-20/EglN3/PHD3, resulting in reduced apoptosis of neural crest cells during development.
Maxwell
Patrick H
PH
Renal Section, Imperial College London, Hammersmith Campus, Du Cane Road, London W12 0NN, United Kingdom. p.maxwell@imperial.ac.uk
D000310:Adrenal Gland Neoplasms / Q000201:enzymology* / Q000235:genetics*; D017209:Apoptosis; D049308:Dioxygenases; D015536:Down-Regulation; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D006801:Humans; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D009154:Mutation; D010673:Pheochromocytoma / Q000201:enzymology* / Q000235:genetics*; D011393:Procollagen-Proline Dioxygenase / Q000235:genetics / Q000378:metabolism*
D049308:Dioxygenases; D011393:Procollagen-Proline Dioxygenase; C488894:EGLN3 protein, human; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases