The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies
Gaurav Sharma,
Martina Paganin,
Fabio Lauria
et al.
Abstract:The underlying cause of Spinal Muscular Atrophy (SMA) is in the reduction of survival motor neuron (SMN) protein levels due to mutations in the SMN1 gene. The specific effects of SMN protein loss and the resulting pathological alterations are not fully understood. Given the crucial roles of the SMN protein in snRNP biogenesis and its interactions with ribosomes and translation-related proteins and mRNAs, a decrease in SMN levels below a specific threshold in SMA is expected to affect translational control of g… Show more
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