Associated Papers
MYO5B Deficiency-Associated Cholestasis and the Role of the Bile Salt Export Pump.
Zhou Z et al.
Cells, 2026
A novel mechanism involving USP53-regulated BSEP trafficking underlies low-GGT intrahepatic cholestasis.
Ding J et al.
Hepatology (baltimore, Md.), 2025
A liver-specific mouse model for MYO5B-associated cholestasis reveals a toxic gain-of-function as underlying disease mechanism.
She HY et al.
Biochemical and Biophysical Research Communications, 2025
Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function.
Bowman DM et al.
The Journal of Biological Chemistry, 2025
An Adult Case of Benign Recurrent Intrahepatic Cholestasis Due to MYO5B Deficiency.
Mishima Y et al.
The Tokai Journal of Experimental and Clinical Medicine, 2024
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
Matarazzo L et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
Wang L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D et al.
Journal of Clinical Medicine, 2021
Mutations in Myosin 5B in Children With Early-onset Cholestasis.
Cockar I et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS et al.
Human Mutation, 2018
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
Gonzales E et al.
Hepatology (baltimore, Md.), 2017