A point mutation in the Pdia6 gene results in loss of pancreatic β-cell identity causing overt diabetes

Biallelic Loss of Function Variant in the Unfolded Protein Response Gene PDIA6 is Associated with Asphyxiating Thoracic Dystrophy and Neonatal‐Onset Diabetes

(2021) Fatima M. Al‐Fadhli et al.   CLINICAL GENETICS

Essential cell-extrinsic requirement for PDIA6 in lymphoid and myeloid development

(2020) Jin Huk Choi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Beta Cell Dedifferentiation Induced by IRE1α Deletion Prevents Type 1 Diabetes

(2020) Hugo Lee et al.   Cell Metabolism

PDIA1/P4HB is required for efficient proinsulin maturation and ß cell health in response to diet induced obesity

(2019) Insook Jang et al.   eLife

Analysis of Purified Pancreatic Islet Beta and Alpha Cell Transcriptomes Reveals 11β-Hydroxysteroid Dehydrogenase (Hsd11b1) as a Novel Disallowed Gene

(2017) Timothy J. Pullen et al.   Frontiers in Genetics

A prominent role of PDIA6 in processing of misfolded proinsulin

(2016) Dhana G. Gorasia et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

PDIA6 regulates insulin secretion by selectively inhibiting the RIDD activity of IRE1

(2016) Daniela Eletto et al.   FASEB JOURNAL

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

(2016) Susanne Diener et al.   MAMMALIAN GENOME

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

(2015) Elisa De Franco et al.   LANCET

The IRE1α/XBP1s Pathway Is Essential for the Glucose Response and Protection of β Cells

(2015) Justin R. Hassler et al.   PLOS BIOLOGY

Protein Disulfide Isomerase A6 Controls the Decay of IRE1α Signaling via Disulfide-Dependent Association

(2014) Davide Eletto et al.   MOLECULAR CELL

Interplay Between the Oxidoreductase PDIA6 and microRNA-322 Controls the Response to Disrupted Endoplasmic Reticulum Calcium Homeostasis

(2014) J. Groenendyk et al.   Science Signaling

Reversible changes in pancreatic islet structure and function produced by elevated blood glucose

(2014) Melissa F. Brereton et al.   Nature Communications

Restoration of the Unfolded Protein Response in Pancreatic   Cells Protects Mice Against Type 1 Diabetes

(2013) F. Engin et al.   Science Translational Medicine

Endoplasmic Reticulum Stress, Pancreatic  -Cell Degeneration, and Diabetes

(2013) F. R. Papa   Cold Spring Harbor Perspectives in Medicine

Pancreatic β Cell Dedifferentiation as a Mechanism of Diabetic β Cell Failure

(2012) Chutima Talchai et al.   CELL

Islet  -Cell Endoplasmic Reticulum Stress Precedes the Onset of Type 1 Diabetes in the Nonobese Diabetic Mouse Model

(2012) S. A. Tersey et al.   DIABETES

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis

(2012) Sibylle Sabrautzki et al.   MAMMALIAN GENOME

Protein Disulfide Isomerase: A Critical Evaluation of Its Function in Disulfide Bond Formation

(2009) Feras Hatahet et al.   ANTIOXIDANTS & REDOX SIGNALING

Features and Strategies of ENU Mouse Mutagenesis

(2009) Dian Soewarto et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Function of IRE1 alpha in the placenta is essential for placental development and embryonic viability

(2009) T. Iwawaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Role for Endoplasmic Reticulum Stress in Diabetes Mellitus

(2008) Décio L. Eizirik et al.   ENDOCRINE REVIEWS

The Unfolded Protein Response: A Pathway That Links Insulin Demand with β-Cell Failure and Diabetes

(2008) Donalyn Scheuner et al.   ENDOCRINE REVIEWS