Several papers documenting the MAPK8IP3* gene variant in humans were recently published in 2019 which led to it classified as a pathogenic variant. In addition, researchers have studied the corresponding MAPK8IP3 gene/protein in various animal models. While this is not an exhaustive list, we have tried to include as many applicable papers as possible. If you are researching the MAPK8IP3 gene variant in human or animal models and would like your paper included here, please contact us.
*MAPK8IP3 gene page on OMIM (catalog of human genes and genetics disorders): https://www.omim.org/entry/605431. Please note that MAPK8IP3 is also known as NEDBA (Neurodevelopmental disorder with or without variable brain abnormalities), JSAP1, JIP3, JIP-3, SYD2, syd, among other names.
Platzer, K., Sticht, H., Edwards, S., Allen, W., Angione, K., Bonati, M., … Jamra, R. (2019). De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies. American Journal of Human Genetics, 104(2), 203-212. https://www.sciencedirect.com/science/article/pii/S0002929718304592
Iwasawa, S., Yanagi, K., Kikuchi, A., Kobayashi, Y., Haginoya, K., Matsumoto, H., … Kure, S. (2019). Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Annals of Neurology, 85(6), 927-933. https://doi.org/10.1002/ana.25481
Gowrishankar, Swetha et al. “Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons.” Molecular biology of the cell vol. 32,11 (2021): 1094-1103. https://www.molbiolcell.org/doi/10.1091/mbc.E20-06-0382?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Gowrishankar, S., Yumei, W., & Ferguson, S. Impaired JIP3-dependent axonal lysosome transport promotes amyloid plaque pathology. (2017). The Journal of Cell Biology, 216(10), 3291–3305. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626538/
Miller, K. (2016). Keeping neuronal cargoes on the right track: new insights into regulators of axonal transport. (2017). The Neuroscientist 23(3), 232–250. https://journals.sagepub.com/doi/full/10.1177/1073858416648307