Ontology highlight
ABSTRACT:
SUBMITTER: Bianchi L
PROVIDER: S-EPMC8122268 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Bianchi Laura L Sframeli Maria M Vantaggiato Lorenza L Vita Gian Luca GL Ciranni Annamaria A Polito Francesca F Oteri Rosaria R Gitto Eloisa E Di Giuseppe Fabrizio F Angelucci Stefania S Versaci Antonio A Messina Sonia S Vita Giuseppe G Bini Luca L Aguennouz M'hammed M
International journal of molecular sciences 20210421 9
Spinal muscular atrophy (SMA) type 1 is a severe infantile autosomal-recessive neuromuscular disorder caused by a survival motor neuron 1 gene (<i>SMN1</i>) mutation and characterized by progressive muscle weakness. Without supportive care, SMA type 1 is rapidly fatal. The antisense oligonucleotide nusinersen has recently improved the natural course of this disease. Here, we investigated, with a functional proteomic approach, cerebrospinal fluid (CSF) protein profiles from SMA type 1 patients wh ...[more]