A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

Deficiency of the mitochondrial enzyme 2-methyl-3-hydroxybutyryl-CoA dehydrogenase involved in isoleucine metabolism causes an organic aciduria with atypical neurodegenerative course. The disease-causing gene is HSD17B10 and encodes 17β-hydroxysteroid dehydrogenase type 10 (HSD10), a protein also im...

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Main Authors: Rauschenberger, Katharina, Schöler, Katja, Sass, Jörn Oliver, Sauer, Sven, Djuric, Zdenka, Rumig, Cordula, Wolf, Nicole I, Okun, Jürgen G, Kölker, Stefan, Schwarz, Heinz, Fischer, Christine, Grziwa, Beate, Runz, Heiko, Nümann, Astrid, Shafqat, Naeem, Kavanagh, Kathryn L, Hämmerling, Günter, Wanders, Ronald J A, Shield, Julian P H, Wendel, Udo, Stern, David, Nawroth, Peter, Hoffmann, Georg F, Bartram, Claus R, Arnold, Bernd, Bierhaus, Angelika, Oppermann, Udo, Steinbeisser, Herbert, Zschocke, Johannes
Format: Online
Language:English
Published: WILEY-VCH Verlag 2010
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377269/