Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis

Hepatology. 2020 Oct;72(4):1461-1468. doi: 10.1002/hep.31430.

Authors

Sven C D van IJzendoorn¹, Qinghong Li¹, Yi-Ling Qiu^{2

3}, Jian-She Wang^{2

3}, Arend W Overeem¹

Affiliations

¹ Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
² Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China.
³ The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.

No abstract available

Publication types

Review

MeSH terms

Cholestasis / enzymology
Cholestasis / etiology
Cholestasis / genetics*
Genotype
Humans
Intestinal Mucosa / metabolism*
Liver / metabolism*
Malabsorption Syndromes / etiology
Malabsorption Syndromes / genetics
Microvilli / genetics
Microvilli / pathology
Mucolipidoses / etiology
Mucolipidoses / genetics
Mutation*
Myosin Heavy Chains / genetics*
Myosin Type V / genetics*
gamma-Glutamyltransferase / analysis*

Substances

MYO5B protein, human
gamma-Glutamyltransferase
Myosin Type V
Myosin Heavy Chains

Supplementary concepts

Microvillus inclusion disease