Article
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Nature - 23 Aug 2012
Wu Chi-Hong, Fallini Claudia, Ticozzi Nicola, Keagle Pamela J, Sapp Peter C, Piotrowska Katarzyna, Lowe Patrick, Koppers Max, McKenna-Yasek Diane, Baron Desiree M, Kost Jason E, Gonzalez-Perez Paloma, Fox Andrew D, Adams Jenni, Taroni Franco, Tiloca Cinzia, Leclerc Ashley Lyn, Chafe Shawn C, Mangroo Dev, Moore Melissa J, Zitzewitz Jill A, Xu Zuo-Shang, van den Berg Leonard H, Glass Jonathan D, Siciliano Gabriele, Cirulli Elizabeth T, Goldstein David B, Salachas Francois, Meininger Vincent, Rossoll Wilfried, Ratti Antonia, Gellera Cinzia, Bosco Daryl A, Bassell Gary J, Silani Vincenzo, Drory Vivian E, Brown Robert H, Landers John E
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a dominant inheritance mode. Despite numerous advances in recent years, nearly 50% of FALS cases have unknown genetic aetiology. Here we show that mutations within the profilin 1 (PFN1) gene can cause FALS. PFN1 is crucial for the...
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