OMIA 002492-9541 : Amyotrophic lateral sclerosis, TARDBP-related in Macaca fascicularis

In other species: pig , Rhesus monkey

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 605078 (gene) , 612069 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific name: Uchida et al. (2015) "overexpressed wild-type human transactive response deoxyribonucleic acid-binding protein 43 [TARDBP] in spinal cords of cynomolgus monkeys ... by injecting adeno-associated virus vector into the cervical cord, and examined the phenotype using behavioural, electrophysiological, neuropathological and biochemical analyses. These monkeys developed progressive motor weakness and muscle atrophy with fasciculation in distal hand muscles ..." This phene includes references to studies involving genetically modified organisms (GMO)


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2021 Bonifacino, T., Zerbo, R.A., Balbi, M., Torazza, C., Frumento, G., Fedele, E., Bonanno, G., Milanese, M. :
Nearly 30 years of animal models to study amyotrophic lateral sclerosis: A historical overview and future perspectives. Int J Mol Sci 22:12236, 2021. Pubmed reference: 34830115. DOI: 10.3390/ijms222212236.
Yang, W., Chen, X., Li, S., Li, X.J. :
Genetically modified large animal models for investigating neurodegenerative diseases. Cell Biosci 11:218, 2021. Pubmed reference: 34933675. DOI: 10.1186/s13578-021-00729-8.
2012 Uchida, A., Sasaguri, H., Kimura, N., Tajiri, M., Ohkubo, T., Ono, F., Sakaue, F., Kanai, K., Hirai, T., Sano, T., Shibuya, K., Kobayashi, M., Yamamoto, M., Yokota, S., Kubodera, T., Tomori, M., Sakaki, K., Enomoto, M., Hirai, Y., Kumagai, J., Yasutomi, Y., Mochizuki, H., Kuwabara, S., Uchihara, T., Mizusawa, H., Yokota, T. :
Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43. Brain 135:833-46, 2012. Pubmed reference: 22252998. DOI: 10.1093/brain/awr348.

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  • Created by Imke Tammen2 on 09 Jan 2022