Abstract Vitamin B12 (cobalamin, Cbl) is a nutrient essential to human health. Due to its
complex structure and dual cofactor forms, Cbl undergoes a complicated series of …

ZNF143, a human homolog of the transcriptional activator Staf, is a C2H2-type protein
consisting of seven zinc finger domains. As a transcription factor (TF), ZNF143 is sequence …

Combined methylmalonic acidemia and homocystinuria (cblC) is the most common inborn
error of intracellular cobalamin metabolism and due to mutations in Methylmalonic Aciduria …

Gene expression is orchestrated by transcription factors, which function within the context of
a three-dimensional genome. Zinc-finger protein 143 (ZNF143/ZFP143) is a transcription …

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 …

CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin
(vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a …

Vitamin B12 or cobalamin deficiency is a commonly encountered clinical scenario and most
clinicians will have familiarity prescribing Vitamin B12 to treat their patients. Despite the high …

Disorders of intracellular cobalamin metabolism have a variable phenotype and age of
onset that are influenced by the severity and location within the pathway of the defect. The …

Nine compounds are classified as water-soluble vitamins, eight B vitamins and one vitamin
C. The vitamins are mandatory for the function of numerous enzymes and lack of one or …

Abstract Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria,
intellectual disability and visual impairment, despite treatment adherence. While …