6533b7d4fe1ef96bd12632bf

RESEARCH PRODUCT

Differential subcellular expression of P525LFUS as a putative biomarker for ALS phenoconversion

Maria CaputoAntonietta NotaroVincenzo La Bella

subject

0301 basic medicineMutationPoint mutationTransporterALS FUS fibroblastsBiologymedicine.disease_causemedicine.diseasePhenotypeCell biology03 medical and health sciences030104 developmental biology0302 clinical medicinemedicine.anatomical_structuremedicineNLSSettore MED/26 - NeurologiaNeurology (clinical)Amyotrophic lateral sclerosisNucleus030217 neurology & neurosurgeryGenetics (clinical)Nuclear localization sequence

description

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

yearjournalcountryeditionlanguage
2020-02-26
10.1212/nxg.0000000000000410https://hdl.handle.net/10447/585371