Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis

 

This review presents recent findings of key biomolecular processes that underlie two motor neuron degenerative disorders, Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). It focusses on the role of four multifunctional proteins involved in RNA metabolism (TDP-43, FUS, SMN and Senataxin) that play a causal role in these diseases and the reported functional and physical interactions between these four proteins, highlighting their common association to nuclear bodies and snRNP biogenesis and function. It also discusses the potential of genome-wide expression profiling, particularly RNA sequencing derived data, to contribute to unravelling the underlying mechanisms.

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Gama-Carvalho M, Garcia-Vaquero ML, Pinto FR, et al. Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis: a genomics perspective. J Neurochem. 2017 Jan 5. doi: 10.1111/jnc.13945. [Epub ahead of print]