HNF1A mutations and beta cell dysfunction in diabetes

Y Miyachi, T Miyazawa, Y Ogawa - International journal of molecular …, 2022 - mdpi.com
Understanding the genetic factors of diabetes is essential for addressing the global increase
in type 2 diabetes. HNF1A mutations cause a monogenic form of diabetes called maturity …

Homocysteine inhibits pro-insulin receptor cleavage and causes insulin resistance via protein cysteine-homocysteinylation

X Zhang, YY Qu, L Liu, YN Qiao, HR Geng, Y Lin, W Xu… - Cell Reports, 2021 - cell.com
Elevation in homocysteine (Hcy) level is associated with insulin resistance; however, the
causality between them and the underlying mechanism remain elusive. Here, we show that …

Insights into the genetics and signaling pathways in maturity-onset diabetes of the young

M Sousa, T Rego, JB Armas - International Journal of Molecular Sciences, 2022 - mdpi.com
Diabetes Mellitus (DM) is a complex disease with a significant impact in today's world.
Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of …

HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes

NHJ Ng, S Ghosh, CM Bok, C Ching, BSJ Low… - Nature …, 2024 - nature.com
Abstract HNF4A and HNF1A encode transcription factors that are important for the
development and function of the pancreas and liver. Mutations in both genes have been …

Sustained hyperglycemia specifically targets translation of mRNAs for insulin secretion

A Cheruiyot, J Hollister-Lock, B Sullivan… - The Journal of …, 2024 - Am Soc Clin Investig
Pancreatic β cells are specialized for coupling glucose metabolism to insulin peptide
production and secretion. Acute glucose exposure robustly and coordinately increases …

Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency

BJ González, H Zhao, J Niu, DJ Williams, J Lee… - Communications …, 2022 - nature.com
Mutations in HNF1A cause Maturity Onset Diabetes of the Young (HNF1A-MODY). To
understand mechanisms of β-cell dysfunction, we generated stem cell-derived pancreatic …

[HTML][HTML] HNF1α maintains pancreatic α and β cell functions in primary human islets

MF Qian, RJ Bevacqua, VMN Coykendall, X Liu… - JCI insight, 2023 - ncbi.nlm.nih.gov
HNF1A haploinsufficiency underlies the most common form of human monogenic diabetes
(HNF1A–maturity onset diabetes of the young [HNF1A-MODY]), and hypomorphic HNF1A …

HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells

JW Chan, CWY Neo, S Ghosh, H Choi, SC Lim… - Cell Death & …, 2023 - nature.com
Renal defects in maturity onset diabetes of the young 3 (MODY3) patients and Hnf1a-/-mice
suggest an involvement of HNF1A in kidney development and/or its function. Although …

The application of precision medicine in monogenic diabetes

F Barbetti, N Rapini, R Schiaffini, C Bizzarri… - Expert Review of …, 2022 - Taylor & Francis
Introduction Monogenic diabetes, a form of diabetes mellitus, is caused by a mutation in a
single gene and may account for 1–2% of all clinical forms of diabetes. To date, more than …

Attenuated glucose uptake promotes catabolic metabolism through activated AMPK signaling and impaired insulin signaling in zebrafish

L Xi, G Zhai, Y Liu, Y Gong, Q Lu, Z Zhang, H Liu… - Frontiers in …, 2023 - frontiersin.org
Glucose metabolism in fish remains a controversial area of research as many fish species
are traditionally considered glucose-intolerant. Although energy homeostasis remodeling …