Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism

Propionic acidemia (PA) is a classical inborn error of metabolism with high morbidity that results from the inability of the propionyl-CoA carboxylase (PCC) enzyme to convert propionyl-CoA to methylmalonyl-CoA. PA is inherited in an autosomal recessive fashion due to functional loss of both alleles...

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Bibliografiska uppgifter
I publikationen:J Inherit Metab Dis
Huvudupphovsmän: Chapman, Kimberly A., Ostrovsky, Julian, Rao, Meera, Dingley, Stephen D., Polyak, Erzsebet, Yudkoff, Marc, Xiao, Rui, Bennett, Michael J., Falk, Marni J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2017
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5832583/
https://ncbi.nlm.nih.gov/pubmed/29159707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0111-x
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