Article
Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Sept 2013
Yang Shu, Fifita Jennifer A, Williams Kelly L, Warraich Sadaf T, Pamphlett Roger, Nicholson Garth A, Blair Ian P
Abstract excerpt
Mutations in PFN1, a gene encoding the actin monomer-binding protein profilin 1, were recently reported in 1% to 2% of familial amyotrophic lateral sclerosis (ALS) patients. In vitro functional studies suggested that PFN1 mutations lead to ubiquitin-positive inclusions and impairment of cytoskeletal pathways. In the present study, mutation analysis of PFN1 was performed in an Australian cohort of 110 ALS families...
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