Article
The SDHB Arg230His mutation causing familial paraganglioma alters glycolysis in a new Caenorhabditis elegans model.
Disease models & mechanisms - 15 Oct 2020
Saskői Éva, Hujber Zoltán, Nyírő Gábor, Likó István, Mátyási Barbara, Petővári Gábor, Mészáros Katalin, Kovács Attila L, Patthy László, Supekar Shreyas, Fan Hao, Sváb Gergely, Tretter László, Sarkar Arunabh, Nazir Aamir, Sebestyén Anna, Patócs Attila, Mehta Anil, Takács-Vellai Krisztina
Abstract excerpt
The conserved B-subunit of succinate dehydrogenase (SDH) participates in the tricarboxylic acid cycle (TCA) cycle and mitochondrial electron transport. The Arg230His mutation in SDHB causes heritable pheochromocytoma/paraganglioma (PPGL). In Caenorhabditiselegans, we generated an in vivo PPGL model (SDHB-1 Arg244His; equivalent to human Arg230His), which manifests delayed development, shortened lifespan,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.