Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder

BACKGROUND: Mitochondrial folate enzyme ALDH1L2 (aldehyde dehydrogenase 1 family member L2) converts 10-formyltetrahydrofolate to tetrahydrofolate and CO(2) simultaneously producing NADPH. We have recently reported that the lack of the enzyme due to compound heterozygous mutations was associated wit...

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Bibliografske podrobnosti
izdano v:Hum Genomics
Main Authors: Krupenko, Natalia I., Sharma, Jaspreet, Pediaditakis, Peter, Helke, Kristi L., Hall, Madeline S., Du, Xiuxia, Sumner, Susan, Krupenko, Sergey A.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Primary Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7654619/
https://ncbi.nlm.nih.gov/pubmed/33168096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-020-00291-3
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