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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Detalhes bibliográficos
Publicado no:Dis Model Mech
Main Authors: Raimer, Amanda C., Singh, Suhana S., Edula, Maina R., Paris-Davila, Tamara, Vandadi, Vasudha, Spring, Ashlyn M., Matera, A. Gregory
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Ltd 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7325441/
https://ncbi.nlm.nih.gov/pubmed/32501283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.043307
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