• Mutation; HGNC; HGNC:30594; UNC45A; Simple; p.Leu237Pro (c.710T>C); ClinVar=VCV000978046; Zygosity=Homozygous (PubMed=36868038).
  

PubMed=35575086; DOI=10.1172/JCI154997; PMCID=PMC9106349
Remi Duclaux-Loras, Corinne Lebreton, Jeremy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Celine Revenu des Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine ...Show all 37 authors... , Ida Chiara Guerrera, Julia Baptista, Maxime M. Mahe, Michael W. Hess, Beatrice Durel, Nathalie Lefort, Celine Banal, Melanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Muller, Lukas Alfons Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Gregoire Michaux, Nadine Cerf-Bensussan, Marianna Parlato; Show fewer authors
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
J. Clin. Invest. 132:e154997.1-e154997.12(2022)

PubMed=36868038; DOI=10.1016/j.scr.2023.103057
Celine Banal, Eddy Quelennec, Cecile Talbotec, Anis Khiat, Fabienne Charbit-Henrion, Nadine Cerf-Bensussan, Nathalie Lefort, Corinne Lebreton;
Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A.
Stem Cell Res. 68:103057-103057(2023)