The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

Pathological expansion of a G(4)C(2) repeat, located in the 5' regulatory region of C9orf72, is the most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). C9orf72 patients have highly variable onset ages suggesting the presence of modifyin...

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Detalles Bibliográficos
Autores principales: Gijselinck, I, Van Mossevelde, S, van der Zee, J, Sieben, A, Engelborghs, S, De Bleecker, J, Ivanoiu, A, Deryck, O, Edbauer, D, Zhang, M, Heeman, B, Bäumer, V, Van den Broeck, M, Mattheijssens, M, Peeters, K, Rogaeva, E, De Jonghe, P, Cras, P, Martin, J-J, de Deyn, P P, Cruts, M, Van Broeckhoven, C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960451/
https://www.ncbi.nlm.nih.gov/pubmed/26481318
http://dx.doi.org/10.1038/mp.2015.159

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