Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia
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DOI: 10.1002/jimd.12570
Abstract: Propionic acidemia (PA, OMIM 606054) is a devastating inborn error of metabolism arising from mutations that reduce the activity of the mitochondrial enzyme propionyl‐CoA carboxylase (PCC). The defects in PCC reduce the concentrations of nonesterified… read more here.
Keywords: mitochondrial function; bbp 671; coa; mouse model ... See more keywords