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Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish

The most common genetic cause of amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD) is a hexanucleotide repeat expansion within the C9orf72 gene. Reduced levels of C9orf72 mRNA and protein have been found in ALS/FTD patients, but the role of this protein in disease pathogenesis i...

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Detalles Bibliográficos
Autores principales: Butti, Zoé, Pan, Yingzhou Edward, Giacomotto, Jean, Patten, Shunmoogum A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8233344/
https://www.ncbi.nlm.nih.gov/pubmed/34172817
http://dx.doi.org/10.1038/s42003-021-02302-y