The Caenorhabditis Elegans Orthologue of the Human Gene Responsible for Spinal Muscular Atrophy Is a Maternal Product Critical for Germline Maturation and Embryonic Viability

Abstract excerpt

Spinal muscular atrophy (SMA) is a common disorder characterized by loss of lower motor neurones of the spinal cord. The disease is caused by mutations in the survival motor neurone ( SMN ) gene. SMN is ubiquitously expressed and evolutionarily conserved, and its role in RNA processing has been well established. However, these properties do not explain the observed specificity of motor neurone death. To gain...

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