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Article

Decreased function of survival motor neuron protein impairs endocytic pathways

11 Jul 2016

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN) protein, with 1 in 40 Caucasians being heterozygous for a disease allele. SMN is critical for the assembly of numerous ribonucleoprotein complexes, yet it is still unclear how reduced SMN levels affect motor neuron function. Here, we examined the impact of SMN depletion in Caenorhabditis elegans and...

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PMID: 27402754
DOI: 10.1073/pnas.1600015113

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