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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2021
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| 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 |