Pre-clinical model of dysregulated FicD AMPylation causes diabetes by disrupting pancreatic endocrine homeostasis

The bi-functional enzyme FicD catalyzes AMPylation and deAMPylation of the endoplasmic reticulum chaperone BiP to modulate ER homeostasis and the unfolded protein response (UPR). Human hFicD with an arginine-to-serine mutation disrupts FicD deAMPylation activity resulting in severe neonatal diabetes...

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Main Authors: Amanda K. Casey, Nathan M. Stewart, Naqi Zaidi, Hillery F. Gray, Hazel A. Fields, Masahiro Sakurai, Carlos A. Pinzon-Arteaga, Bret M. Evers, Jun Wu, Kim Orth
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Molecular Metabolism
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Online Access:http://www.sciencedirect.com/science/article/pii/S2212877825000274
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author Amanda K. Casey
Nathan M. Stewart
Naqi Zaidi
Hillery F. Gray
Hazel A. Fields
Masahiro Sakurai
Carlos A. Pinzon-Arteaga
Bret M. Evers
Jun Wu
Kim Orth
author_facet Amanda K. Casey
Nathan M. Stewart
Naqi Zaidi
Hillery F. Gray
Hazel A. Fields
Masahiro Sakurai
Carlos A. Pinzon-Arteaga
Bret M. Evers
Jun Wu
Kim Orth
author_sort Amanda K. Casey
collection DOAJ
description The bi-functional enzyme FicD catalyzes AMPylation and deAMPylation of the endoplasmic reticulum chaperone BiP to modulate ER homeostasis and the unfolded protein response (UPR). Human hFicD with an arginine-to-serine mutation disrupts FicD deAMPylation activity resulting in severe neonatal diabetes. We generated the mFicDR371S mutation in mice to create a pre-clinical murine model for neonatal diabetes. We observed elevated BiP AMPylation levels across multiple tissues and signature markers for diabetes including glucose intolerance and reduced serum insulin levels. While the pancreas of mFicDR371S mice appeared normal at birth, adult mFicDR371S mice displayed disturbed pancreatic islet organization that progressed with age. mFicDR371S mice provide a preclinical mouse model for the study of UPR associated diabetes and demonstrate the essentiality of FicD for tissue resilience.
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series Molecular Metabolism
spelling doaj-art-c1f0c53ca2f1446aafeff598ee9c58122025-08-20T02:08:11ZengElsevierMolecular Metabolism2212-87782025-05-019510212010.1016/j.molmet.2025.102120Pre-clinical model of dysregulated FicD AMPylation causes diabetes by disrupting pancreatic endocrine homeostasisAmanda K. Casey0Nathan M. Stewart1Naqi Zaidi2Hillery F. Gray3Hazel A. Fields4Masahiro Sakurai5Carlos A. Pinzon-Arteaga6Bret M. Evers7Jun Wu8Kim Orth9Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA; Howard Hughes Medical Institute, Dallas, TX, 75390, USADepartment of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA; Howard Hughes Medical Institute, Dallas, TX, 75390, USADepartment of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USADepartment of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA; Howard Hughes Medical Institute, Dallas, TX, 75390, USADepartment of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USADepartment of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USADepartment of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USADepartment of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USADepartment of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA; Cecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; USA; Hamon Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Corresponding author. Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA; Howard Hughes Medical Institute, Dallas, TX, 75390, USA; Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA; Corresponding author. Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.The bi-functional enzyme FicD catalyzes AMPylation and deAMPylation of the endoplasmic reticulum chaperone BiP to modulate ER homeostasis and the unfolded protein response (UPR). Human hFicD with an arginine-to-serine mutation disrupts FicD deAMPylation activity resulting in severe neonatal diabetes. We generated the mFicDR371S mutation in mice to create a pre-clinical murine model for neonatal diabetes. We observed elevated BiP AMPylation levels across multiple tissues and signature markers for diabetes including glucose intolerance and reduced serum insulin levels. While the pancreas of mFicDR371S mice appeared normal at birth, adult mFicDR371S mice displayed disturbed pancreatic islet organization that progressed with age. mFicDR371S mice provide a preclinical mouse model for the study of UPR associated diabetes and demonstrate the essentiality of FicD for tissue resilience.http://www.sciencedirect.com/science/article/pii/S2212877825000274AMPylationBiPFicDInsulinIslet biologyNeonatal diabetes
spellingShingle Amanda K. Casey
Nathan M. Stewart
Naqi Zaidi
Hillery F. Gray
Hazel A. Fields
Masahiro Sakurai
Carlos A. Pinzon-Arteaga
Bret M. Evers
Jun Wu
Kim Orth
Pre-clinical model of dysregulated FicD AMPylation causes diabetes by disrupting pancreatic endocrine homeostasis
Molecular Metabolism
AMPylation
BiP
FicD
Insulin
Islet biology
Neonatal diabetes
title Pre-clinical model of dysregulated FicD AMPylation causes diabetes by disrupting pancreatic endocrine homeostasis
title_full Pre-clinical model of dysregulated FicD AMPylation causes diabetes by disrupting pancreatic endocrine homeostasis
title_fullStr Pre-clinical model of dysregulated FicD AMPylation causes diabetes by disrupting pancreatic endocrine homeostasis
title_full_unstemmed Pre-clinical model of dysregulated FicD AMPylation causes diabetes by disrupting pancreatic endocrine homeostasis
title_short Pre-clinical model of dysregulated FicD AMPylation causes diabetes by disrupting pancreatic endocrine homeostasis
title_sort pre clinical model of dysregulated ficd ampylation causes diabetes by disrupting pancreatic endocrine homeostasis
topic AMPylation
BiP
FicD
Insulin
Islet biology
Neonatal diabetes
url http://www.sciencedirect.com/science/article/pii/S2212877825000274
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