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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Detalles Bibliográficos
Autores principales: Raimer, Amanda C., Singh, Suhana S., Edula, Maina R., Paris-Davila, Tamara, Vandadi, Vasudha, Spring, Ashlyn M., Matera, A. Gregory
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325441/
https://www.ncbi.nlm.nih.gov/pubmed/32501283
http://dx.doi.org/10.1242/dmm.043307

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