Molecular overview of progressive familial intrahepatic cholestasis

S Amirneni, N Haep, MA Gad… - World journal of …, 2020 - pmc.ncbi.nlm.nih.gov
Cholestasis is a clinical condition resulting from the imapairment of bile flow. This condition
could be caused by defects of the hepatocytes, which are responsible for the complex …

The genetics of monogenic intestinal epithelial disorders

SJ Babcock, D Flores-Marin, JR Thiagarajah - Human Genetics, 2023 - Springer
Monogenic intestinal epithelial disorders, also known as congenital diarrheas and
enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that …

Modeling the cell biology of monogenetic intestinal epithelial disorders

I Kaji, JR Thiagarajah, JR Goldenring - Journal of Cell Biology, 2024 - rupress.org
Monogenetic variants are responsible for a range of congenital human diseases. Variants in
genes that are important for intestinal epithelial function cause a group of disorders …

Increased intestinal permeability and downregulation of absorptive ion transporters Nhe3, Dra, and Sglt1 contribute to diarrhea during Clostridioides difficile …

FC Peritore-Galve, I Kaji, A Smith, LM Walker… - Gut …, 2023 - Taylor & Francis
ABSTRACT Background & Aim Clostridioides difficile infection (CDI) is the leading cause of
hospital-acquired diarrhea and pseudomembranous colitis. Two protein toxins, TcdA and …

Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease

M Kalashyan, K Raghunathan, H Oller, MT Bayer… - The Journal of Clinical …, 2023 - jci.org
Microvillus inclusion disease (MVID), caused by loss-of-function mutations in the motor
protein myosin Vb (MYO5B), is a severe infantile disease characterized by diarrhea …

Aquaporin: targets for dietary nutrients to regulate intestinal health

H Lv, Y Li, C Xue, N Dong, C Bi… - Journal of Animal …, 2022 - Wiley Online Library
Aquaporins (AQP) are a class of water channel membrane proteins that are widely
expressed in the gut. The biological functions of aquaporins, which regulate the absorption …

Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis

S **e, S Wei, X Ma, R Wang, T He, Z Zhang… - Frontiers in …, 2023 - frontiersin.org
Hereditary cholestatic liver disease caused by a class of autosomal gene mutations results
in jaundice, which involves the abnormality of the synthesis, secretion, and other disorders …

Lysophosphatidic acid increases maturation of brush borders and SGLT1 activity in MYO5B-deficient mice, a model of microvillus inclusion disease

I Kaji, JT Roland, M Watanabe, AC Engevik… - Gastroenterology, 2020 - Elsevier
Background & Aim Myosin VB (MYO5B) is an essential trafficking protein for membrane
recycling in gastrointestinal epithelial cells. The inactivating mutations of MYO5B cause the …

Cell differentiation is disrupted by MYO5B loss through Wnt/Notch imbalance

I Kaji, JT Roland, S Rathan-Kumar, AC Engevik… - JCI …, 2021 - pmc.ncbi.nlm.nih.gov
Functional loss of myosin Vb (MYO5B) induces a variety of deficits in intestinal epithelial cell
function and causes a congenital diarrheal disorder, microvillus inclusion disease (MVID) …

Alterations in cellular metabolic pathway and epithelial cell maturation induced by MYO5B defects are partially reversible by LPAR5 activation

M Momoh, S Rathan-Kumar… - American Journal …, 2024 - journals.physiology.org
Functional loss of the motor protein myosin Vb (MYO5B) induces various defects in intestinal
epithelial function and causes a congenital diarrheal disorder, namely, microvillus inclusion …