OMIA:002725-9541 : Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 in Macaca fascicularis (crab-eating macaque)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 105550 (trait) , 614260 (gene)

Links to relevant human diseases in MONDO:

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."

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