Abstract Methyl-Cobalamin (Cbl) derives from dietary vitamin B12 and acts as a cofactor of
methionine synthase (MS) in mammals. MS encoded by MTR catalyzes the remethylation of …

Epigenetic diseases can be produced by a stable alteration, called an epimutation, in DNA
methylation, in which epigenome alterations are directly involved in the underlying …

CLYBL encodes a ubiquitously expressed mitochondrial enzyme, conserved across all
vertebrates, whose cellular activity and pathway assignment are unknown. Its homozygous …

Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with
limited knowledge of the influence of age and the function of related genes. We report a …

Beyond energy production, nutrient metabolism plays a crucial role in stem cell lineage
determination. Changes in metabolism based on nutrient availability and dietary habits …

The MMACHC gene encodes for an enzyme involved in intracellular vitamin B 12
metabolism, and autosomal recessive defects in MMACHC represent the most common …

Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization
of vitamin B 12 (B 12) lead to hematological and neurological manifestations. The cblC …

Las anemias megaloblásticas agrupan una serie de desórdenes que se caracterizan por el
cambio morfológico de los eritrocitos y su alteración en el desarrollo y maduración a nivel …

Background Disorders of the metabolism and absorption of vitamin B12 can lead to
decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase …

Dihydrofolate reductase (DHFR) is a critical enzyme in folate metabolism that reduces folic
acid to dihydrofolic and tetrahydrofolic acid and provides an important target for …