Article
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.
Neuro-degenerative diseases - 1 Jan 2017
Fifita Jennifer A, Zhang Katharine Y, Galper Jasmin, Williams Kelly L, McCann Emily P, Hogan Alison L, Saunders Neil, Bauer Denis, Tarr Ingrid S, Pamphlett Roger, Nicholson Garth A, Rowe Dominic, Yang Shu, Blair Ian P
Abstract excerpt
BACKGROUND: Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Mutations were also described in the prion-like domain of hnRNPA1 in patients with classic ALS. Another...
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