Article
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
Neurobiology of aging - 1 Apr 2012
Sproviero William, La Bella Vincenzo, Mazzei Rosalucia, Valentino Paola, Rodolico Carmelo, Simone Isabella Laura, Logroscino Giancarlo, Ungaro Carmine, Magariello Angela, Patitucci Alessandra, Tedeschi Gioacchino, Spataro Rossella, Condino Francesca, Bono Francesco, Citrigno Luigi, Monsurrò Maria Rosaria, Muglia Maria, Gambardella Antonio, Quattrone Aldo, Conforti Francesca Luisa
Abstract excerpt
Fused in sarcoma (FUS) or translocation in liposarcoma (TLS), a DNA/RNA-binding protein, causes a dominant autosomal inherited form of amyotrophic lateral sclerosis (ALS), ALS 6. Its main role in neurodegeneration is highlighted by the presence of cytoplasmic accumulation of its mutant protein form in ALS patients. To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.