Article
Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila.
Disease models & mechanisms - 22 May 2020
Raimer Amanda C, Singh Suhana S, Edula Maina R, Paris-Davila Tamara, Vandadi Vasudha, Spring Ashlyn M, Matera A Gregory
Abstract excerpt
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 levels cause dramatic changes in disease severity. Thus, deeper insight into mechanisms that regulate SMN protein...
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