Article

Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism

2022-03-01

Abstract excerpt

<title>Abstract</title> <p>The SLC25A32 dysfunction is associated with neural tube defects (NTDs) and exercise intolerance, but very little is known about disease specific mechanisms due to a paucity of animal models. Here, we generated homozygous (<italic>Slc25a32</italic><sup><italic>Y174C/Y174C</italic></sup> and <italic>Slc25a32</italic><sup><italic>K235R/K235R</italic></sup>) and compound heterozygous (<ital...

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Literature Corpus work: 9bce85dd-2c32-545a-99c6-a3658a8c4e11
DOI: 10.21203/rs.3.rs-1381037/v1

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