Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients.

Jennifer J SiranosianFlavia C NeryChristiano R R AlvesBenjamin A SiranosianNicholas J LyonsEric J EichelbergerReid GarnerSalomé Da Silva Duarte LepezAlec J JohnstoneAravind SubramanianKathryn J Swoboda

Published in: Annals of clinical and translational neurology (2020)

Our findings from whole blood and patient-derived fibroblasts suggest SMA type 3 patients have decreased expression of actin cytoskeleton regulators. These observations provide new insights and potential therapeutic targets for SMA patients with longstanding denervation and secondary musculoskeletal pathophysiology.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
patient reported outcomes
risk assessment
climate change
cell migration
human health