Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.

Chiara PanicucciEray SahinMartina BartolucciSara CasaliniNoemi BrolattiMarina PedemonteSerena BarattoSara PintusElisa PrincipiAdele D'AmicoMarika PaneMarina SframeliSonia MessinaEmilio AlbamonteValeria A SansoneEugenio MercuriEnrico BertiniUgur SezermanAndrea PetrettoClaudio Bruno

Published in: Cellular and molecular life sciences : CMLS (2024)

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.

Keyphrases

end stage renal disease
newly diagnosed
machine learning
ejection fraction
chronic kidney disease
peritoneal dialysis
prognostic factors
mass spectrometry
patient reported outcomes
deep learning