OMIA:002725-9541 : Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 in Macaca fascicularis (crab-eating macaque) |
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 105550 (trait) , 614260 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific description: Xu et al. (2023): "Poly(PR) ... is one of the translational product of expanded G4C2 repeats in the C9orf72 gene, and its accumulation is contributing to the neuropathogenesis of C9orf72-associated amyotrophic lateral sclerosis and/or frontotemporal dementia (C9-ALS/FTD). [By delivering poly(PR) via [adeno-associated virus, the authors] demonstrate that poly(PR) protein alone is sufficient to induce neurodegeneration related to ALS/FTD in cynomolgus monkeys."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002725-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Xu, L., Wang, D., Zhao, L., Yang, Z., Liu, X., Li, X., Yuan, T., Wang, Y., Huang, T., Bian, N., He, Y., Chen, X., Tian, B., Liu, Z., Luo, F., Si, W., Gao, G., Ji, W., Niu, Y., Wei, J. : |
| C9orf72 poly(PR) aggregation in nucleus induces ALS/FTD-related neurodegeneration in cynomolgus monkeys. Neurobiol Dis :106197, 2023. Pubmed reference: 37328037. DOI: 10.1016/j.nbd.2023.106197. |
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- Created by Imke Tammen2 on 19 Jun 2023