UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking
Author:
Funder
Agence nationale de la recherche
H2020 European Research Council
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/154997/files/pdf
Reference39 articles.
1. Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies
2. Intestinal immunoregulation: lessons from human mendelian diseases
3. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
4. The UNC-45 myosin chaperone: from worms to flies to vertebrates;Lee;Int Rev Cell Mol Biol,2014
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1. Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A;Stem Cell Research;2023-04
2. UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate;European Journal of Medical Genetics;2023-02
3. A CRISPR screen in intestinal epithelial cells identifies novel factors for polarity and apical transport;eLife;2023-01-20
4. Case report: Osteo-oto-hepato-enteric syndrome caused by UNC45A deficiency;Frontiers in Genetics;2023-01-09
5. The genetics of monogenic intestinal epithelial disorders;Human Genetics;2022-11-23
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