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 des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M.
Duclaux-Loras R, et al.
J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997.
J Clin Invest. 2022.
PMID: 35575086
Free PMC article.
Here, biallelic variants in UNC45A were identified by next-generation sequencing in 6 patients with congenital diarrhea. Corroborating in silico prediction, variants either abolished UNC45A expression or altered protein conformation. ...Patients and UNC45AKO 3D orga …
Here, biallelic variants in UNC45A were identified by next-generation sequencing in 6 patients with congenital diarrhea. Corroboratin …