Now showing items 1-1 of 1

    • UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking 

      Duclaux-Loras, R.; Lebreton, C.; Berthelet, J.; Charbit-Henrion, F.; Nicolle, O.; Revenu de Courtils, C.; Waich, S.; Valovka, T.; Khiat, A.; Rabant, M.; Racine, C.; Guerrera, I. C.; Baptista, J.; Mahe, M. M.; Hess, M. W.; Durel, B.; Lefort, N.; Banal, C.; Parisot, M.; Talbotec, C.; Lacaille, F.; Ecochard-Dugelay, E.; Demir, A. M.; Vogel, G. F.; Faivre, L.; Rodrigues, A.; Fowler, D.; Janecke, A. R.; Müller, T.; Huber, L. A.; Rodrigues-Lima, F.; Ruemmele, F. M.; Uhlig, H. H.; Del Bene, F.; Michaux, G.; Cerf-Bensussan, N.; Parlato, M. (American Society for Clinical Investigation, 2022-05-16)
      Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains ...