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An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD

Dysfunction and degeneration of synapses is a common feature of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). A GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene is the main genetic cause of ALS/FTD (C9ALS/FTD). The repeat expansion leads to reduced expression of the...

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Detalles Bibliográficos
Autores principales: Bauer, Claudia S., Cohen, Rebecca N., Sironi, Francesca, Livesey, Matthew R., Gillingwater, Thomas H., Highley, J. Robin, Fillingham, Daniel J., Coldicott, Ian, Smith, Emma F., Gibson, Yolanda B., Webster, Christopher P., Grierson, Andrew J., Bendotti, Caterina, De Vos, Kurt J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381633/
https://www.ncbi.nlm.nih.gov/pubmed/35876881
http://dx.doi.org/10.1007/s00401-022-02470-z