Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy

Ubiquitous deficiency in the survival motor neuron (SMN) protein causes death of motor neurons—a hallmark of the neurodegenerative disease spinal muscular atrophy (SMA)—through poorly understood mechanisms. Here, we show that the function of SMN in the assembly of spliceosomal small nuclear ribonucl...

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Detalles Bibliográficos
Autores principales: Van Alstyne, Meaghan, Simon, Christian M., Sardi, S. Pablo, Shihabuddin, Lamya S., Mentis, George Z., Pellizzoni, Livio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075148/
https://www.ncbi.nlm.nih.gov/pubmed/30012555
http://dx.doi.org/10.1101/gad.316059.118

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