Investigators used three human β cell models to investigate the mechanism through which YIPF5 loss of function affects β cells. Loss of YIPF5 function in stem cell–derived islet cells resulted in proinsulin retention in the ER, marked ER stress, and β cell failure.
[Journal of Clinical Investigation]
Franco, E. D., Lytrivi, M., Ibrahim, H., Montaser, H., Wakeling, M. N., Fantuzzi, F., Patel, K., Demarez, C., Cai, Y., Igoillo-Esteve, M., Cosentino, C., Lithovius, V., Vihinen, H., Jokitalo, E., Laver, T. W., Johnson, M. B., Sawatani, T., Shakeri, H., Pachera, N., … Hattersley, A. T. (2020). YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. The Journal of Clinical Investigation, 130(12). https://doi.org/10.1172/JCI141455 Cite
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