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Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.
Int J Mol Sci. 2020 Sep 25;21(19):7063. doi: 10.3390/ijms21197063.
Int J Mol Sci. 2020.
PMID: 32992790
Free PMC article.
Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.
Ribeiro JV, Lucas TG, Bross P, Gomes CM, Henriques BJ.
Ribeiro JV, et al.
Biochim Biophys Acta Proteins Proteom. 2020 Jan;1868(1):140269. doi: 10.1016/j.bbapap.2019.140269. Epub 2019 Sep 3.
Biochim Biophys Acta Proteins Proteom. 2020.
PMID: 31491587
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