Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
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
MON-239 Relief of CoA Sequestration by PANKs Agonist As a Potential Treatment for Acidemias
Sign Up to like & getrecommendations! Published in 2025 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvaf149.1713
Abstract: Abstract Disclosure: K. Zhang: None. J. Zhao: None. Y. Xia: None. W. Zhai: None. F. Yang: None. Methylmalonic acidemia (MMA), an autosomal recessive disorder, is characterized by increased levels of propionyl carnitine (C3) and methylmalonic… read more here.
Keywords: coa; relief coa; none; bbp 671 ... See more keywords