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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Dis Model Mech
Prif Awduron: Raimer, Amanda C., Singh, Suhana S., Edula, Maina R., Paris-Davila, Tamara, Vandadi, Vasudha, Spring, Ashlyn M., Matera, A. Gregory
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Company of Biologists Ltd 2020
Pynciau:
Research Article
Mynediad Ar-lein: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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