Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila

• Main Authors: Amanda C. Raimer (Author), Suhana S. Singh (Author), Maina R. Edula (Author), Tamara Paris-Davila (Author), Vasudha Vandadi (Author), Ashlyn M. Spring (Author), A. Gregory Matera (Author)
• פורמט: ספר
• יצא לאור: The Company of Biologists, 2020-05-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Spinal muscular atrophy (SMA) is the leading genetic cause of death in young children, arising from homozygous deletion or mutation of the survival motor neuron 1 (SMN1) gene. SMN protein expressed from a paralogous gene, SMN2, is the primary genetic modifier of SMA; small changes in overall SMN lev...