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Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease

Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism due to the deficiency of mitochondrial MMUT (methylmalonyl-CoA mutase) – an enzyme that mediates the cellular breakdown of certain amino acids and lipids. The loss of MMUT leads to the accumulation of toxic organic aci...

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Bibliografiske detaljer
Udgivet i:Autophagy
Main Authors: Luciani, Alessandro, Devuyst, Olivier
Format: Artigo
Sprog:Inglês
Udgivet: Taylor & Francis 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7469617/
https://ncbi.nlm.nih.gov/pubmed/32316822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15548627.2020.1753927
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