Article
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.
Neurobiology of aging - 1 May 2013
Tiloca Cinzia, Ticozzi Nicola, Pensato Viviana, Corrado Lucia, Del Bo Roberto, Bertolin Cinzia, Fenoglio Chiara, Gagliardi Stella, Calini Daniela, Lauria Giuseppe, Castellotti Barbara, Bagarotti Alessandra, Corti Stefania, Galimberti Daniela, Cagnin Annachiara, Gabelli Carlo, Ranieri Michela, Ceroni Mauro, Siciliano Gabriele, Mazzini Letizia, Cereda Cristina, Scarpini Elio, Sorarù Gianni, Comi Giacomo P, D'Alfonso Sandra, Gellera Cinzia, Ratti Antonia, Landers John E, Silani Vincenzo
Abstract excerpt
Mutations in the profilin 1 (PFN1) gene, encoding a protein regulating filamentous actin growth through its binding to monomeric G-actin, have been recently identified in familial amyotrophic lateral sclerosis (ALS). Functional studies performed on ALS-associated PFN1 mutants demonstrated aggregation propensity, alterations in growth cone, and cytoskeletal dynamics. Previous screening of PFN1 gene in sporadic ALS...
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