Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination....

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Detalles Bibliográficos
Autores principales: Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C., Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S., Kang, Peter B., Griffin, Helen, Foley, A. Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986733/
https://www.ncbi.nlm.nih.gov/pubmed/29727687
http://dx.doi.org/10.1016/j.ajhg.2018.03.011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986733/
https://www.ncbi.nlm.nih.gov/pubmed/29727687
http://dx.doi.org/10.1016/j.ajhg.2018.03.011

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