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10.1126/scitranslmed.aar5429 41 EliezerD.KutluayE.BussellR.BrowneG

24 With respect to this, the negative association between frequency of the cSHMT -C1420T variant and latitude documented in this study may indicate that activity of the de novo thymidylate synthesis pathway is increasingly impaired in populations exposed to higher UVR, but the burden of this variant is unclear due to mSHMT likely maintaining cSHMT activity in such cases

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Mutations identified in patients with defective lipoic acid metabolism affect genes involved in the synthesis of iron-sulfur clusters and genes coding for lipoic acid synthetase ( LIAS ), lipoyl transferase 1 ( LIPT1 ), and dihydrolipoamide dehydrogenase (E3 component of -ketoacid dehydrogenase complexes