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UnknownIdentification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain.
Not available
S-EPMC8040968 | biostudies-literature
UnknownInduced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.
Not available
S-EPMC10900122 | biostudies-literature
UnknownGenetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Not available
S-EPMC6525113 | biostudies-literature
UnknownApplication of qualifying variants for genomic analysis.
Not available
S-EPMC12926777 | biostudies-literature
UnknownClinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
Not available
S-EPMC5512089 | biostudies-literature
UnknownShifting landscapes of human MTHFR missense-variant effects.
Not available
S-EPMC8322931 | biostudies-literature
UnknownMitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria.
Not available
S-EPMC11897345 | biostudies-literature
UnknownInsights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Not available
S-EPMC10460489 | biostudies-literature
UnknownEpimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Not available
S-EPMC9020039 | biostudies-literature
UnknownA non-enzymatic role of Nudix hydrolase 5 in repressing purine de novo synthesis.
Not available
S-EPMC7618541 | biostudies-literature
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