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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: WILEY-VCH Verlag 2010
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377269/
https://www.ncbi.nlm.nih.gov/pubmed/20077426
http://dx.doi.org/10.1002/emmm.200900055

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