Longo, L.; Randazzo, L.; Bollati, M.; Carrotta, R.; Costa, M. A.; De Rosa, M.; Mangione, M. R.; Martorana, V.; Culletta, G.; Tutone, M.; Mari, E.; Ortore, M. G.; Garcia-Franco, P. M.; Velazquez-Campoy, A.; Passantino, R.; Vilasi, S.
MOLECULAR GENETICS AND METABOLISM, 145, 2025
DOI: 10.1016/j.ymgme.2025.109150
Modulation of conformational features and oligomerization of MMACHC by cobalamin variants: impact of the R161Q mutation in cblC disease
Longo, L.; Costa, M. A.; Carrotta, R.; Mangione, M. R.; Martorana, V.; Tutone, M.; Ortore, M. G.; Garcia-Franco, P. M.; Vega, S.; Velazquez-Campoy, A.; Passantino, R.; Vilasi, S.
EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS, 2025
DOI: 10.1007/s00249-025-01777-5
Studying an orphan disease by a biophysical approach: The case of cblC
Vilasi, S.; Longo, L.; Randazzo, L.; Bollati, M.; Carrotta, R.; Costa, M. A.; De Rosa, M.; Mangione, M. R.; Martorana, V.; Milani, M.; Ortore, M. G.; Tutone, M.; Passantino, R.
IL NUOVO CIMENTO C, 47, 2024
DOI: 10.1393/ncc/i2024-24318-2
Lisa Longo
Associate
Contact:
- Email lisa.longo@ibf.cnr.it
- Phone
- Location Palermo
Publications (3):
Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutationLongo, L.; Randazzo, L.; Bollati, M.; Carrotta, R.; Costa, M. A.; De Rosa, M.; Mangione, M. R.; Martorana, V.; Culletta, G.; Tutone, M.; Mari, E.; Ortore, M. G.; Garcia-Franco, P. M.; Velazquez-Campoy, A.; Passantino, R.; Vilasi, S.
MOLECULAR GENETICS AND METABOLISM, 145, 2025
DOI: 10.1016/j.ymgme.2025.109150
Modulation of conformational features and oligomerization of MMACHC by cobalamin variants: impact of the R161Q mutation in cblC disease
Longo, L.; Costa, M. A.; Carrotta, R.; Mangione, M. R.; Martorana, V.; Tutone, M.; Ortore, M. G.; Garcia-Franco, P. M.; Vega, S.; Velazquez-Campoy, A.; Passantino, R.; Vilasi, S.
EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS, 2025
DOI: 10.1007/s00249-025-01777-5
Studying an orphan disease by a biophysical approach: The case of cblC
Vilasi, S.; Longo, L.; Randazzo, L.; Bollati, M.; Carrotta, R.; Costa, M. A.; De Rosa, M.; Mangione, M. R.; Martorana, V.; Milani, M.; Ortore, M. G.; Tutone, M.; Passantino, R.
IL NUOVO CIMENTO C, 47, 2024
DOI: 10.1393/ncc/i2024-24318-2