Article

Transcriptomic comparison of <i>Drosophila</i> snRNP biogenesis mutants: implications for Spinal Muscular Atrophy

2016-03-19

Abstract excerpt

Spinal Muscular Atrophy (SMA) is caused by deletion or mutation of the Survival Motor Neuron 1 gene ( SMN1 )1, but the mechanism whereby reduced levels of SMN protein lead to disease is unknown. SMN functions in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and potential splicing defects have been uncovered in various animal models of SMA. We used disruptions in Smn and two additional s...

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Literature Corpus work: 5fe71c2e-0815-555b-b68b-2476e29e1bc4
DOI: 10.1101/044693

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