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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9106349/
https://www.ncbi.nlm.nih.gov/pubmed/35575086
http://dx.doi.org/10.1172/JCI154997

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9106349/
https://www.ncbi.nlm.nih.gov/pubmed/35575086
http://dx.doi.org/10.1172/JCI154997

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