Differential subcellular expression of P525L FUS as a putative biomarker for ALS phenoconversion
Copyright policy )Differential subcellular expression of P525L FUS as a putative biomarker for ALS phenoconversion
P525LFused-in-Sarcoma ( FUS ) mutation is associated with a specific amyotrophic lateral sclerosis (ALS) phenotype characterized by a juvenile-onset and a severe course.1 This harmful point mutation is located in the nuclear localization signal (NLS) domain at the protein C-terminal.2 Although wild-type FUS protein is expressed almost exclusively in the nucleus, the P525L FUS mutation leads to a protein mislocalization into the cytoplasm3,4 because of its loss of capacity to bind its transporter karyopherin-2 and to be transferred back to the nucleus.3
- University of Palermo Italy
fibroblasts, Settore MED/26 - Neurologia, ALS, FUS, fibroblasts, ALS, Clinical/Scientific Notes, FUS
fibroblasts, Settore MED/26 - Neurologia, ALS, FUS, fibroblasts, ALS, Clinical/Scientific Notes, FUS
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