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Article

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons

26 Jun 2015

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in Survival Motor Neuron 1 (SMN1), leading to degeneration of alpha motor neurons (MNs) but also affecting other cell types. Induced pluripotent stem cell (iPSC)-derived human MN models from severe SMA patients have shown relevant phenotypes. We have produced and fully characterized iPSCs from members of a discordant consanguineous...

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PMID: 26114395
DOI: 10.1038/srep11696

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