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Dominant ER Stress-Inducing Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
- Published in:
- 2017
- By:
- Publication type:
- journal article
GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models.
- Published in:
- Diabetologia, 2023, v. 66, n. 7, p. 1306, doi. 10.1007/s00125-023-05905-8
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- Publication type:
- Article
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
- Published in:
- Scientific Reports, 2016, p. 21167, doi. 10.1038/srep21167
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- Publication type:
- Article
High frequency of inactivation of the imprinted H19 gene in 'sporadic' hepatoblastoma.
- Published in:
- International Journal of Cancer, 1999, v. 82, n. 4, p. 490, doi. 10.1002/(SICI)1097-0215(19990812)82:4<490::AID-IJC4>3.0.CO;2-I
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- Publication type:
- Article
MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-42154-0
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- Publication type:
- Article
Production of BBF2H7‐derived small peptide fragments via endoplasmic reticulum stress‐dependent regulated intramembrane proteolysis.
- Published in:
- FASEB Journal, 2020, v. 34, n. 1, p. 865, doi. 10.1096/fj.201901748R
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- Publication type:
- Article
Lessons from Wolfram Syndrome: Initiation of DDAVP Therapy Causes Renal Salt Wasting Due to Elevated ANP/BNP Levels, Rescued by Fludrocortisone Treatment.
- Published in:
- 2021
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- Publication type:
- journal article
corrigendum: IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA.
- Published in:
- 2002
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- Publication type:
- Erratum
A survival pathway for Caenorhabditis elegans with a blocked unfolded protein response.
- Published in:
- Journal of Cell Biology, 2002, v. 158, n. 4, p. 639, doi. 10.1083/jcb.200203086
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- Publication type:
- Article
Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-41604-4
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- Publication type:
- Article
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1198171
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- Publication type:
- Article
Gene-edited human stem cell–derived β cells from a patient with monogenic diabetes reverse preexisting diabetes in mice.
- Published in:
- Science Translational Medicine, 2020, v. 12, n. 540, p. 1, doi. 10.1126/scitranslmed.aax9106
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- Publication type:
- Article
Male sterility and enhanced radiation sensitivity in TLS<sup>-/-</sup> mice.
- Published in:
- EMBO Journal, 2000, v. 19, n. 3, p. 453, doi. 10.1093/emboj/19.3.453
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- Publication type:
- Article
1789-P: Inactivation of Acyl-Protein Thioesterase 1, a Major Mediator of Palmitoylation Cycling, Promotes Insulin Secretion and ß-Cell Failure.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1789-P
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- Publication type:
- Article
1656-P: FGF-21 Receptor Variants Demonstrate Severe Insulin Resistance in a Mouse Model of Insulin Mediated Pseudoacromegaly.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1656-P
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- Publication type:
- Article
85-LB: A Phase 1b/2 Clinical Trial of Dantrolene Sodium in Patients with Wolfram Syndrome.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-85-LB
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- Publication type:
- Article
345-LB: Mesencephalic Astrocyte-Derived Neurotrophic Factor (MANF): A New Therapeutic Target for Wolfram Syndrome.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-345-LB
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- Publication type:
- Article
26-OR: Digenic FGFR1/KLB Variants Associated with Endocrine Specific FGF-21 Signaling Defects and Extreme Insulin Resistance.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-26-OR
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- Publication type:
- Article
2152-P: Impaired Iron-Sulfur-Cluster Redox Regulation in Monogenic Ncb5or Diabetes.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-2152-P
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- Publication type:
- Article
Wolfram Syndrome iPS Cells: The First Human Cell Model of Endoplasmic Reticulum Disease.
- Published in:
- 2014
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- Publication type:
- Opinion
Endoplasmic Reticulum: An Interface Between the Immune System and Metabolism.
- Published in:
- Diabetes, 2014, v. 63, n. 1, p. 48, doi. 10.2337/db13-1478
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- Publication type:
- Article
Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation.
- Published in:
- Diabetes, 2013, v. 62, n. 11, p. 3943, doi. 10.2337/db13-0571
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- Publication type:
- Article
ER stress as a trigger for β-cell dysfunction and autoimmunity in type 1 diabetes.
- Published in:
- 2012
- By:
- Publication type:
- journal article
ER Stress as a Trigger for β-Cell Dysfunction and Autoimmunity in Type 1 Diabetes.
- Published in:
- 2012
- By:
- Publication type:
- Opinion
The role of nitric oxide and the unfolded protein response in cytokine-induced beta-cell death.
- Published in:
- 2008
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- Publication type:
- journal article
The Role of Nitric Oxide and the Unfolded Protein Response in Cytokine-Induced ß-Cell Death.
- Published in:
- Diabetes, 2008, v. 57, n. 1, p. 124, doi. 10.2337/db07-0944
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- Publication type:
- Article
The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 230, doi. 10.3390/ijms24010230
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- Publication type:
- Article
Molecular Analysis of Ewing's Sarcoma: Another Fusion Gene, EWS-E1AF, Available for Diagnosis.
- Published in:
- Cancer Science, 1998, v. 89, n. 7, p. 703, doi. 10.1111/j.1349-7006.1998.tb03274.x
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- Publication type:
- Article
Protein kinase C signaling during T cell activation induces the endoplasmic reticulum stress response.
- Published in:
- Cell Stress & Chaperones, 2008, v. 13, n. 4, p. 421, doi. 10.1007/s12192-008-0038-0
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- Publication type:
- Article
Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7.
- Published in:
- BMC Biology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12915-021-01080-7
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- Publication type:
- Article
Cytoplasmic Polyadenylation Element Binding Protein Deficiency Stimulates PTEN and Stat3 mRNA Translation and Induces Hepatic Insulin Resistance.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 1, p. 1, doi. 10.1371/journal.pgen.1002457
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- Publication type:
- Article
Bisphosphonates prevent age-related weight loss in Japanese postmenopausal women.
- Published in:
- Journal of Bone & Mineral Metabolism, 2018, v. 36, n. 6, p. 734, doi. 10.1007/s00774-017-0891-y
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- Publication type:
- Article
Low serum osteocalcin concentration is associated with incident type 2 diabetes mellitus in Japanese women.
- Published in:
- 2018
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- Publication type:
- journal article
Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.849204
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- Publication type:
- Article
Deficiency of WFS1 increases vulnerability to pathological tau in vitro and in vivo: Molecular and cell biology/tau.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.042085
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- Publication type:
- Article
A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 12, p. 2355, doi. 10.1002/ccr3.2494
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- Publication type:
- Article
Listeria monocytogenes induces an interferon-enhanced activation of the integrated stress response that is detrimental for resolution of infection in mice.
- Published in:
- European Journal of Immunology, 2017, v. 47, n. 5, p. 830, doi. 10.1002/eji.201646856
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- Publication type:
- Article
10. Dantrolene as a Therapeutic Option for Wolfram Syndrome (134-OR).
- Published in:
- Nederlands Tijdschrift voor Diabetologie (NTvD), 2015, v. 13, n. 3, p. 63, doi. 10.1007/s12467-015-0031-z
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- Publication type:
- Article
Improved function and proliferation of adult human beta cells engrafted in diabetic immunodeficient NOD-scid IL2rγ<sup>null</sup> mice treated with alogliptin.
- Published in:
- Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2013, v. 6, p. 493, doi. 10.2147/DMSO.S53154
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- Publication type:
- Article
KLF15 Is a Molecular Link between Endoplasmic Reticulum Stress and Insulin Resistance.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077851
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- Publication type:
- Article
c-Abl Inhibition Delays Motor Neuron Degeneration in the G93A Mouse, an Animal Model of Amyotrophic Lateral Sclerosis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046185
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- Publication type:
- Article
A Novel Role for the Centrosomal Protein, Pericentrin, in Regulation of Insulin Secretory Vesicle Docking in Mouse Pancreatic β-cells.
- Published in:
- PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011812
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- Publication type:
- Article
Transcriptional Regulation of VEGF-A by the Unfolded Protein Response Pathway.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009575
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- Publication type:
- Article
Valproate, a Mood Stabilizer, Induces WFS1 Expression and Modulates Its Interaction with ER Stress Protein GRP94.
- Published in:
- PLoS ONE, 2009, v. 4, n. 1, p. 1, doi. 10.1371/journal.pone.0004134
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- Publication type:
- Article
The Role of IRE1α in the Degradation of Insulin mRNA in Pancreatic β-Cells.
- Published in:
- PLoS ONE, 2008, v. 3, n. 2, p. 1, doi. 10.1371/journal.pone.0001648
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- Publication type:
- Article
Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome.
- Published in:
- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.795317
- By:
- Publication type:
- Article
Novel Treatment of Chronic Graft-Versus-Host Disease in Mice Using the ER Stress Reducer 4-Phenylbutyric Acid.
- Published in:
- Scientific Reports, 2017, p. 41939, doi. 10.1038/srep41939
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- Publication type:
- Article
Retraction: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion.
- Published in:
- Nature Cell Biology, 2015, v. 17, n. 1, p. 105, doi. 10.1038/ncb3088
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- Publication type:
- Article
Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion.
- Published in:
- Nature Cell Biology, 2012, v. 14, n. 10, p. 1105, doi. 10.1038/ncb2578
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- Publication type:
- Article
Upregulation of BiP and CHOP by the unfolded-protein response is independent of presenilin expression.
- Published in:
- Nature Cell Biology, 2000, v. 2, n. 12, p. 863, doi. 10.1038/35046500
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- Publication type:
- Article