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Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutation.
Mol Genet Metab. 2025 Jul;145(3):109150. doi: 10.1016/j.ymgme.2025.109150. Epub 2025 May 22.
Mol Genet Metab. 2025.
PMID: 40441036
Free article.
Modulation of conformational features and oligomerization of MMACHC by cobalamin variants: impact of the R161Q mutation in cblC disease.
Longo L, Costa MA, Carrotta R, Mangione MR, Martorana V, Tutone M, Ortore MG, Garcia-Franco PM, Vega S, Velazquez-Campoy A, Passantino R, Vilasi S.
Longo L, et al. Among authors: garcia franco pm.
Eur Biophys J. 2025 Jun 27. doi: 10.1007/s00249-025-01777-5. Online ahead of print.
Eur Biophys J. 2025.
PMID: 40576712
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