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Centri nazionali e Centri di riferimento

Centro nazionale Malattie rare

Indietro Pubblicazioni selezionate


 

  • S. Coppola, A. Insalaco et al. Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders2022. J Allergy Clin Immunol 2022 Feb 12;S0091-6749(22)00151-8. PMID: 35157921 doi: 10.1016/j.jaci.2022.01.024. Online ahead of print
  • M. Lam, S. Coppola et al. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function2019. J Exp Med. 2019 Dec 2;216(12):2778-2799. PMID: 31601675 doi: 10.1084/jem.20190147
  • S. Martinelli, O. Krumbach, F. Pantaleoni, S. Coppola et al. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes2018. Am J Hum Genet 2018 Feb 1;102(2):309-320. PMID: 29394990 doi: 10.1016/j.ajhg.2017.12.015
  • M. Diociaiuti, R. Bonanni, I. Cariati, C. Frank, G. D'Arcangelo. Amyloid Prefibrillar Oligomers: The Surprising Commonalities in Their Structure and Activity. International Journal of Molecular Sciences 22(12) (2021) 6435. doi: 10.3390/ijms22126435
  • I. Cariati, R. Bonanni, M. Marini, A.M. Rinaldi, B. Zarrilli, V. Tancredi, C. Frank, G. D'Arcangelo, M. Diociaiuti. Role of Electrostatic Interactions in Calcitonin Prefibrillar Oligomer-Induced Amyloid Neurotoxicity and Protective Effect of Neuraminidase. International Journal of Molecular Sciences 22(8) (2021) 3947 doi: 10.3390/ijms22083947
  • M. Diociaiuti, C. Bombelli, L. Zanetti-Polzi, M. Belfiore, R. Fioravanti, G. Macchia, C. Giordani. The Interaction between Amyloid Prefibrillar Oligomers of Salmon Calcitonin and a Lipid-Raft Model: Molecular Mechanisms Leading to Membrane Damage, Ca2+-Influx and Neurotoxicity. Biomolecules 10(1) (2020) 58. doi: 10.3390/biom10010058
  • M. Belfiore, I. Cariati, A. Matteucci, L. Gaddini, G. Macchia, R. Fioravanti, C. Frank, V. Tancredi, G. D’Arcangelo, M. Diociaiuti. Calcitonin native prefibrillar oligomers but not monomers induce membrane damage that triggers NMDA-mediated Ca2+-influx, LTP impairment and neurotoxicity. Scientific Reports 9 (2019) 5144. doi: 10.1038/s41598-019-41462-0
     


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