| ISSN |
1948-9358 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
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| Permissions |
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Endocrinology & Metabolism |
| Manuscript Type |
Basic Study |
| Article Title |
Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
Ping Shi, Yang Tian, Feng Xu, Lu-Na Liu, Wan-Hong Wu, Ying-Zhou Shi, An-Qi Dai, Hang-Yu Fang, Kun-Xia Li and Chao Xu |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation |
81974124 |
| Taishan Scholar Project |
tsqn20161071 |
|
| Corresponding Author |
Kun-Xia Li, MS, Doctor, Doctor, Department of Pediatric, Yantai Yuhuangding Hospital Affiliated to Qingdao University, Yantai 264099, Shandong Province, China. 1228161314@qq.com |
| Key Words |
Domain; Gene mutation; Bioinformatics analysis; Maturity-onset diabetes of the young; Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 |
| Core Tip |
We identified five new mutations in the adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 (APPL1) gene, a critical regulator of insulin signaling and glucose metabolism, in maturity-onset diabetes of the young type 14 patients. We conducted bioinformatics and functional experiments and showed that two mutations were pathogenic, resulting in reduced expression of the APPL1 protein and mRNA. All mutations were in the phosphotyrosine-binding domain of APPL1, which is important for its insulin-sensitizing effect. This study gave new insights into the pathogenicity of APPL1 mutations in diabetes and revealed potential targets for improved diagnosis and treatment strategies. |
| Publish Date |
2024-02-04 10:57 |
| Citation |
Shi P, Tian Y, Xu F, Liu LN, Wu WH, Shi YZ, Dai AQ, Fang HY, Li KX, Xu C. Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients. World J Diabetes 2024; 15(2): 275-286 |
| URL |
https://www.wjgnet.com/1948-9358/full/v15/i2/275.htm |
| DOI |
https://dx.doi.org/10.4239/wjd.v15.i2.275 |
