Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by the presence of intranuclear inclusions of unknown origin. NIID is caused by an expansion of GGC repeats in the 5′ UTR of the NOTCH2NLC (N2C) gene. We found that these repeats are embedded in a small upstr...

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Detalles Bibliográficos
Autores principales: Boivin, Manon, Deng, Jianwen, Pfister, Véronique, Grandgirard, Erwan, Oulad-Abdelghani, Mustapha, Morlet, Bastien, Ruffenach, Frank, Negroni, Luc, Koebel, Pascale, Jacob, Hugues, Riet, Fabrice, Dijkstra, Anke A., McFadden, Kathryn, Clayton, Wiley A., Hong, Daojun, Miyahara, Hiroaki, Iwasaki, Yasushi, Sone, Jun, Wang, Zhaoxia, Charlet-Berguerand, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2021
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186563/
https://www.ncbi.nlm.nih.gov/pubmed/33887199
http://dx.doi.org/10.1016/j.neuron.2021.03.038

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