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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Bibliographische Detailangaben
Veröffentlicht in:Dis Model Mech
Hauptverfasser: Raimer, Amanda C., Singh, Suhana S., Edula, Maina R., Paris-Davila, Tamara, Vandadi, Vasudha, Spring, Ashlyn M., Matera, A. Gregory
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Company of Biologists Ltd 2020
Schlagworte:
Research Article
Online Zugang: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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