MMACHC Citations (3)

Originally described in: SGC+year
unpublished

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Articles Citing MMACHC

Articles
Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant. Passantino R, Mangione MR, Ortore MG, Costa MA, Provenzano A, Amenitsch H, Sabbatella R, Alfano C, Martorana V, Vilasi S. Biochim Biophys Acta Proteins Proteom. 2022 Jun 1;1870(6):140793. doi: 10.1016/j.bbapap.2022.140793. Epub 2022 May 23. PubMed
Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutation. Longo L, Randazzo L, Bollati M, Carrotta R, Costa MA, De Rosa M, Mangione MR, Martorana V, Culletta G, Tutone M, Mari E, Ortore MG, Garcia-Franco PM, Velazquez-Campoy A, Passantino R, Vilasi S. Mol Genet Metab. 2025 Jul;145(3):109150. doi: 10.1016/j.ymgme.2025.109150. Epub 2025 May 22. PubMed
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. Eur Biophys J. 2025 Jun 27. doi: 10.1007/s00249-025-01777-5. PubMed

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