期刊论文详细信息
Frontiers in Endocrinology
From glucose sensing to exocytosis: takes from maturity onset diabetes of the young
Endocrinology
Qiaoli Zhou1  Wei Gu1  Aihua Zhang2  Bixia Zheng2  Sama Samadli3 
[1] Department of Endocrinology, Children’s Hospital of Nanjing Medical University, Nanjing, China;Nanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical University, Nanjing, China;Nanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical University, Nanjing, China;Department of Pediatric Diseases II, Azerbaijan Medical University, Baku, Azerbaijan;
关键词: MODY;    maturity onset diabetes of the young;    glucokinase;    channelopathy;    unfolded protein response;    transcription factors;    carboxy ester lipase;   
DOI  :  10.3389/fendo.2023.1188301
 received in 2023-03-17, accepted in 2023-04-28,  发布年份 2023
来源: Frontiers
PDF
【 摘 要 】

Monogenic diabetes gave us simplified models of complex molecular processes occurring within β-cells, which allowed to explore the roles of numerous proteins from single protein perspective. Constellation of characteristic phenotypic features and wide application of genetic sequencing techniques to clinical practice, made the major form of monogenic diabetes – the Maturity Onset Diabetes of the Young to be distinguishable from type 1, type 2 as well as neonatal diabetes mellitus and understanding underlying molecular events for each type of MODY contributed to the advancements of antidiabetic therapy and stem cell research tremendously. The functional analysis of MODY-causing proteins in diabetes development, not only provided better care for patients suffering from diabetes, but also enriched our comprehension regarding the universal cellular processes including transcriptional and translational regulation, behavior of ion channels and transporters, cargo trafficking, exocytosis. In this review, we will overview structure and function of MODY-causing proteins, alterations in a particular protein arising from the deleterious mutations to the corresponding gene and their consequences, and translation of this knowledge into new treatment strategies.

【 授权许可】

Unknown   
Copyright © 2023 Samadli, Zhou, Zheng, Gu and Zhang

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fendo-14-1188301-i001.tif 27KB Image download
FEART_feart-2023-1057982_wc_tfx1.tif 377KB Image download
fendo-14-1188301-i003.tif 28KB Image download
fendo-14-1188301-i004.tif 26KB Image download
fendo-14-1188301-i005.tif 26KB Image download
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