Background Remethylation defects are rare inherited disorders in which impaired
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …

Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of
intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is …

Thermal denaturation-based methods are becoming increasingly used to characterize
protein stability and interactions. Recent technical advances have made these methods …

Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic
diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn …

This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …

Rare diseases are most often caused by inherited genetic disorders that, after translation,
will result in a protein with altered function. Decreased protein stability is the most frequent …

The CblC and CblD chaperones are involved in early steps in the cobalamin trafficking
pathway. Cobalamin derivatives entering the cytoplasm are converted by CblC to a common …

Methylmalonyl‐C o A mutase (MUT) is an essential enzyme in propionate catabolism that
requires adenosylcobalamin as a cofactor. Almost 250 inherited mutations in the MUT gene …

Cystathionine β-synthase (CBS) is a key enzyme in sulfur metabolism, and its inherited
deficiency causes homocystinuria. Mammalian CBS is modulated by the binding of S …

Conversion of vitamin B 12 (cobalamin, Cbl) into the cofactor forms methyl-Cbl (MeCbl) and
adenosyl-Cbl (AdoCbl) is required for the function of two crucial enzymes, mitochondrial …