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Last Updated: 10/31/2025
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Found 198 publications
LPAR5 as a prospective therapeutic target for treating microvillus inclusion disease.
Journal: Expert opinion on therapeutic targets
Published: April 30, 2025
A liver-specific mouse model for MYO5B-associated cholestasis reveals a toxic gain-of-function as underlying disease mechanism.
Journal: Biochemical and biophysical research communications
Published: March 13, 2025
Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series.
Journal: Orphanet journal of rare diseases
Published: February 06, 2025
Syntaxin 3 regulates apical membrane integrity in proximal tubule epithelial cells and prevents Fanconi syndrome development.
Journal: Kidney international
Published: December 27, 2024
Alterations in cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation.
Journal: American journal of physiology. Gastrointestinal and liver physiology
Published: October 15, 2024
Microvillus inclusion disease: a short review of literature.
Journal: Gastroenterology and hepatology from bed to bench
Published: October 05, 2024
Altered cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation.
Journal: bioRxiv : the preprint server for biology
Published: September 16, 2024
Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function.
Journal: The Journal of biological chemistry
Published: September 12, 2024
Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.
Journal: JCI insight
Published: July 31, 2024
An Adult Case of Benign Recurrent Intrahepatic Cholestasis Due to MYO5B Deficiency.
Journal: The Tokai journal of experimental and clinical medicine
Published: May 09, 2024
SLC26A3 (DRA, the Congenital Chloride Diarrhea Gene): A Novel Therapeutic Target for Diarrheal Diseases.
Journal: Cellular and molecular gastroenterology and hepatology
Published: May 01, 2024
Last Updated: 10/31/2025