Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function

Mutations of succinate dehydrogenase subunit B (SDHB) play a crucial role in the pathogenesis of the most aggressive and metastatic pheochromocytomas (PHEOs) and paragangliomas (PGLs). Although a variety of missense mutations in the coding sequence of the SDHB gene have been found in PHEOs and PGLs,...

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Detalhes bibliográficos
Main Authors: Yang, Chunzhang, Matro, Joey C., Huntoon, Kristin M., Ye, Donald Y., Huynh, Thanh T., Fliedner, Stephanie M. J., Breza, Jan, Zhuang, Zhengping, Pacak, Karel
Formato: Artigo
Idioma:Inglês
Publicado em: Federation of American Societies for Experimental Biology 2012
Assuntos:
Research Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3475262/
https://ncbi.nlm.nih.gov/pubmed/22835832
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.12-210146
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