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

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

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...

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Bibliographic Details
Main Authors: Amanda C. Raimer, Suhana S. Singh, Maina R. Edula, Tamara Paris-Davila, Vasudha Vandadi, Ashlyn M. Spring, A. Gregory Matera
Format: Article
Language:English
Published: The Company of Biologists 2020-05-01
Series:Disease Models & Mechanisms
Subjects:
drosophila models of human disease
smn protein
spinal muscular atrophy
tudor domain
Online Access:http://dmm.biologists.org/content/13/5/dmm043307

Internet

http://dmm.biologists.org/content/13/5/dmm043307

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