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Article

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

19 Dec 2012

Abstract excerpt

Two motor neuron diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), are caused by distinct genes involved in RNA metabolism, TDP-43 and FUS/TLS, and SMN, respectively. However, whether there is a shared defective mechanism in RNA metabolism common to these two diseases remains unclear. Here, we show that TDP-43 and FUS/TLS localize in nuclear Gems through an association with SMN, and...

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PMID: 23255347
DOI: 10.1002/emmm.201202303

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