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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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| Udgivet i: | Autophagy |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Taylor & Francis
2020
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| 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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