Article
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
The Journal of clinical investigation - 16 May 2022
Duclaux-Loras Rémi, Lebreton Corinne, Berthelet Jérémy, Charbit-Henrion Fabienne, Nicolle Ophelie, Revenu des Courtils Céline, Waich Stephanie, Valovka Taras, Khiat Anis, Rabant Marion, Racine Caroline, Guerrera Ida Chiara, Baptista Júlia, Mahe Maxime M, Hess Michael W, Durel Béatrice, Lefort Nathalie, Banal Céline, Parisot Mélanie, Talbotec Cecile, Lacaille Florence, Ecochard-Dugelay Emmanuelle, Demir Arzu Meltem, Vogel Georg F, Faivre Laurence, Rodrigues Astor, Fowler Darren, Janecke Andreas R, Müller Thomas, Huber Lukas A, Rodrigues-Lima Fernando, Ruemmele Frank M, Uhlig Holm H, Del Bene Filippo, Michaux Grégoire, Cerf-Bensussan Nadine, Parlato Marianna
Abstract excerpt
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 unclear. Here, biallelic variants in UNC45A were identified by next-generation sequencing in 6 patients with congenital diarrhea. Corroborating in silico prediction, variants either abolished...
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