Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy
This untargeted LC-MS proteomic profiling in the CSF of SMA patients revealed differences in protein expression in naïve patients and showed nusinersen-related modulation in several biological processes after 10 months of treatment. Further confirmatory studies are needed to validate these results in larger number of patients and over abroader timeframe.
Authors
- Martina Bartolucci (ORCID: https://orcid.org/0000-0001-5289-4219)
- Adele D’Amico (ORCID: https://orcid.org/0000-0003-2438-2624)
- Valeria Sansone (ORCID: https://orcid.org/0000-0002-1354-3800)
- Sara Pintus
- Chiara Panicucci (ORCID: https://orcid.org/0000-0003-4571-611X)
- Serena Baratto (ORCID: https://orcid.org/0000-0002-4633-4933)
- Elisa Principi (ORCID: https://orcid.org/0000-0003-3747-1167)
- Osman Uğur Sezerman (ORCID: https://orcid.org/0000-0003-0905-6783)
- Eugenio Maria Mercuri (ORCID: https://orcid.org/0000-0002-9851-5365)
- Sara Casalini (ORCID: https://orcid.org/0000-0002-4433-4307)
- Marika Pane (ORCID: https://orcid.org/0000-0002-4851-6124)
- Marina Pedemonte (ORCID: https://orcid.org/0000-0001-8410-6918)
- Andrea Petretto (ORCID: https://orcid.org/0000-0001-7811-8517)
- Emilio Albamonte (ORCID: https://orcid.org/0000-0002-8465-4460)
- Eray Şahin (ORCID: https://orcid.org/0000-0002-0873-2439)
- Noemi Brolatti
- Claudio Bruno (ORCID: https://orcid.org/0000-0002-3426-2901)
- Marina Sframeli
- Enrico Bertini
- Sonia Messina
Institutions
- University of Messina (IT)
- University of Milan (IT)
- Istituto Giannina Gaslini (IT)
- Agostino Gemelli University Polyclinic (IT)
- Centro Clinico Nemo (IT)
- Bambino Gesù Children's Hospital (IT)
- Kent Hastanesi (TR)
- Acıbadem Adana Hospital (TR)
- University of Genoa (IT)
Publication Details
- Journal
- Cellular and Molecular Life Sciences
- Published
- 2024-09-10
- DOI
- https://doi.org/10.1007/s00018-024-05426-6
- Citations
- 6
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.63
Funders
- Ministero della Salute
- Türkiye Bilimsel ve Teknolojik Araştırma Kurumu
- Università degli Studi di Genova