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...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
WILEY-VCH Verlag
2010
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377269/ |