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Article

Modulation of conformational features and oligomerization of MMACHC by cobalamin variants: impact of the R161Q mutation in cblC disease.

European biophysics journal : EBJ - 1 Jun 2026

Longo Lisa, Costa Maria Assunta, Carrotta Rita, Mangione Maria Rosalia, Martorana Vincenzo, Tutone Marco, Ortore Maria Grazia, Garcia-Franco Paula M, Vega Sonia, Velazquez-Campoy Adrian, Passantino Rosa, Vilasi Silvia

Abstract excerpt

Vitamin B12 (cobalamin, Cbl) is a coordination compound of the cobalt, located at the center of a corrin ring composed of four pyrrolic-like groups. The cobalt ion can be bound to a variety of upper axial ligands, which vary among different cobalamin forms, including hydroxocobalamin (OHCbl), cyanocobalamin (CNCbl), methylcobalamin (MeCbl), and adenosylcobalamin (AdoCbl). MeCbl and AdoCbl are considered the...

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Identifiers

PMID: 40576712
DOI: 10.1007/s00249-025-01777-5
PMCID: PMC13320084

Genes

MMACHC

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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