5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

Folate metabolism in the brain is critically important and serves a number of vital roles in nucleotide synthesis, single carbon metabolism/methylation, amino acid metabolism, and mitochondrial translation. Genetic defects in almost every enzyme of folate metabolism have been reported to date, and m...

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Vydáno v:Mol Genet Metab
Hlavní autoři: Rodan, Lance H., Qi, Wanshu, Ducker, Gregory S., Demirbas, Didem, Laine, Regina, Yang, Edward, Walker, Melissa A., Eichler, Florian, Rabinowitz, Joshua D., Anselm, Irina, Berry, Gerard T.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6557438/
https://ncbi.nlm.nih.gov/pubmed/30031689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.06.006
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