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ER Stress DiseasesRegulation of the ER Stress Response by a Mitochondrial Microprotein. Chu, Qian, et al. Nature News, Nature Publishing Group, 25 Oct, 2019 Small Molecules to Improve ER Proteostasis in Disease. Gonzalez-Teuber, Vicente, et al.Trends in Pharmacological Sciences, Elsevier Current Trends, 31 July 2019 Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells.Stone S, Abreu D, Mahadevan J, Asada R, Kries K, Graf R, Marshall BA, Hershey T, Urano F. Sci Rep. 2019 Mar 26;9(1):5199. Wolfram Syndrome: Diagnosis, Management, and Treatment. Urano, Fumihiko.Current Diabetes Reports, Springer US, Jan. 2016 Small Molecular Allosteric Activator of the Sarco/Endoplasmic Reticulum Ca2+-ATPase (SERCA) Attenuates Diabetes and Metabolic Disorders The Impact of the Unfolded Protein Response on Human Disease. Wang, et al.Journal of Cell Biology, The Rockefeller University Press, 25 June 2012 Role of Endoplasmic Reticulum Stress in Metabolic Disease and Other Disorders.Ozcan, Lale, and Ira Tabas.Annual Review of Medicine, U.S. National Library of Medicine, 2012 Endoplasmic Reticulum Stress and Glucose Homeostasis. Wagner, Martin, and David D Moore.Current Opinion in Clinical Nutrition and Metabolic Care, U.S. National Library of Medicine, July 2011 Endoplasmic-Reticulum Calcium Depletion and Disease. Mekahli, Djalila, et al.Cold Spring Harbor Perspectives in Biology, Cold Spring Harbor Laboratory Press, 1 June 2011 The Role for Endoplasmic Reticulum Stress in Diabetes Mellitus.Eizirik, Décio L, et al.Endocrine Reviews, U.S. National Library of Medicine, Feb. 2008 Common Variants in WFS1 Confer Risk of Type 2 Diabetes. Sandhu, Manjinder S, et al.Nature Genetics, U.S. National Library of Medicine, Aug. 2007 Misfolded Proteins, Endoplasmic Reticulum Stress and Neurodegeneration. Rao, Rammohan V, and Dale E Bredesen.Current Opinion in Cell Biology, U.S. National Library of Medicine, Dec. 2004, |
Wolfram SyndromeSerum microRNA as indicators of Wolfram syndrome’s progression in neuroimaging studies. Agnieszka Zmyslowska,Marcin Stanczak,Zuzanna Nowicka, Arleta Waszczykowska, Dobromila Baranska, Wojciech Fendler, Maciej Borowiec, Wojciech Młynarski. BMJ Open Diabetes Research and Care. Vol 8 (2) Nov. 1, 2020 Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome. A. Samara, H.M. Lugar, T. Hershey and J.S. Shimony. American Journal of Neuroradiology. October, 2020. Wolfram syndrome: a monogenic model for diabetes mellitus and neurodegeneration.Tom T. Fischer, Barbara E. Ehrlich. Current Opinion in Physiology. Volume 17, October 2020, Pgs. 115-123 Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram SyndromeDawid P.Grzelaa ,Beata Marciniak, Lukasz Pulaskiac, Stem Cell Res. Vol 36, July 2020. Diabetes and Neurodegeneration in Wolfram Syndrome. Julia Rohayem, Christian Ehlers, Bärbel Wiedemann, Reinhard Holl, Konrad Oexle, Olga Kordonouri, Giuseppina Salzano,7 Thomas Meissner, Walter Burger, Edith Schober, Angela Huebner, Min Ae Lee-Kirsch. Diabetes Care. July, 2011 34(7) Longitudinal Progression of Diabetes Mellitus in Wolfram Syndrome Ray, MK, Hershey, T, Chen, L, White, N, Marshall, B Diabetes 2020 Jun; 69(Supplement 1) Taste and smell function in Wolfram syndrome.Alfaro R, Doty T, Narayanan A, Lugar H, Hershey T, Pepino MY.Orphanet J Rare Dis. 2020 Feb 22;15(1):57. Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses. Samara A, Rahn R, Neyman O, Park KY, Samara A, Marshall B, Dougherty J, Hershey T.Orphanet J Rare Dis. 2019 Dec 3;14(1):279 Sleep disturbances in Wolfram syndrome.Licis A, Davis G, Eisenstein SA, Lugar HM, Hershey T.Orphanet J Rare Dis. 2019 Aug 2;14(1):188. Evidence for altered neurodevelopment and neurodegeneration in Wolfram syndrome using longitudinal morphometry.Lugar HM, Koller JM, Rutlin J, Eisenstein SA, Neyman O, Narayanan A, Chen L, Shimony JS, Hershey T. Sci Rep. 2019 Apr 12;9(1):6010. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives.Pallotta, M.T., Tascini, G., Crispoldi, R. et al.J Transl Med 17, 238 (2019) Lower Urinary Tract Dysfunction and Associated Pons Volume in Patients with Wolfram Syndrome. Rove KO, Vricella GJ, Hershey T, Thu MH, Lugar HM, Vetter J, Marshall BA, Austin PF. J Urol. 2018 Nov;200(5):1107-1113. ER-Mitochondria Cross-Talk Is Regulated by the Ca2+ Sensor NCS1 and Is Impaired in Wolfram Syndrome.Angebault, Claire, et al.Science Signaling, U.S. National Library of Medicine, 23 Oct. 2018 Longitudinal hearing loss in Wolfram syndrome. Karzon R, Narayanan A, Chen L, Lieu JEC, Hershey T.Orphanet J Rare Dis. 2018 Jun 27;13(1):102 Evidence for Altered Neurodevelopment and Neurodegeneration in Wolfram Syndrome Using Longitudinal Morphometry.Lugar, Heather M., et al.Nature News, Nature Publishing Group, 12 Apr. 2019 Identification of a Missense Variant in the WFS1 Gene That Causes a Mild Form of Wolfram Syndrome and Is Associated with Risk for Type 2 Diabetes in Ashkenazi Jewish Individuals.Bansal, Vikas, et al.Diabetologia, U.S. National Library of Medicine, Oct. 2018 Wolfram Syndrome: MAMs' Connection? Delprat, Benjamin, et al.Nature News, Nature Publishing Group, 6 Mar. 2018 Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression.Hoekel J, Narayanan A, Rutlin J, Lugar H, Al-Lozi A, Hershey T, Tychsen L. BMJ Open Ophthalmol. 2018 Jan 18;3(1):e000081. Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.Lugar HM, Koller JM, Rutlin J, Marshall BA, Kanekura K, Urano F, Bischoff AN, Shimony JS, Hershey T; Washington University Wolfram Syndrome Research Study Group. Sci Rep. 2016 Feb 18;6:21167. Selective cognitive and psychiatric manifestations in Wolfram Syndrome. Bischoff AN, Reiersen AM, Buttlaire A, Al-Lozi A, Doty T, Marshall BA, Hershey T; Washington University Wolfram Syndrome Research Group. Orphanet J Rare Dis. 2015 May 30;10:66. Wolframin Expression Induces Novel Ion Channel Activity in Endoplasmic Reticulum Membranes and Increases Intracellular CalciumOsman‡, Abdullah A., et al.Journal of Biological Chemistry, 26 Dec. 2003 Sarco(Endo)Plasmic Reticulum ATPase Is a Molecular Partner of Wolfram Syndrome 1 Protein, Which Negatively Regulates Its Expression.Zatyka, Malgorzata, et al.Human Molecular Genetics, Oxford University Press, 1 Feb. 2015 Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome. Hoekel J, Chisholm SA, Al-Lozi A, Hershey T, Tychsen L; Washington University Wolfram Study Group.J AAPOS. 2014 Oct;18(5):461-465.e1. Phenotypic characteristics of early Wolfram syndrome.Marshall BA et al.Washington University Wolfram Study Group Orphanet J Rare Dis. 2013 Apr 27;8:64. Early presentation of gait impairment in Wolfram Syndrome.Pickett KA et al. Washington University Wolfram Study Group Orphanet J Rare Dis. 2012 Dec 8;7:92. Reliability and validity of the Wolfram Unified Rating Scale (WURS). Nguyen C et al.Washington University Wolfram Study Group Orphanet J Rare Dis. 2012 Nov 14;7:89. Early brain vulnerability in Wolfram syndrome. Hershey T, et al.Washington University Wolfram Study Group PLoS One. 2012;7(7):e40604. Balance impairment in individuals with Wolfram syndrome. Pickett KA et al. Washington University Wolfram Study Group. 2012 Jul;36(3):619-24. |
WS TreatmentLiraglutide, 7,8-DHF and their co-treatment prevents loss of vision and cognitive decline in a Wolfram syndrome rat model. Kadri Seppa, Toomas Jagomäe, Kaia Grete Kukker, Riin Reimets,Marko Pastak, Eero Vasar, Anton Terasmaa & Mario Plaas. Sci Rep11, 2275 (Jan 26, 2021). Psychiatric Diagnoses and Treatment in Wolfram Syndrome. Angela M. Reiersen, MD, MPE, Anagha Narayanan, BA Richa A. Sinkre Tamara Hershey, PhD. AACAP Poster 2.5. Oct. 16, 2019. Calpain inhibitor and ibudilast rescue β cell functions in a cellular model of Wolfram syndrome Lien D. Nguyen,Tom T. Fischer, Damien Abreu, Alfredo Arroyo, Fumihiko Urano, and Barbara E. Ehrlich PNAS July 21, 2020 117 (29) 17389-17398. Liraglutide protects pancreatic β cells from endoplasmic reticulum stress by upregulating MANF to promote autophagy turnover. Jili Fu, Kija Malale Nchambi, Hao Wu, Xie Luo, Xizhou An, Dongfang Liu. Life Sciences. Vol 252, 1 July 2020, GLP-1 Receptor Agonist Liraglutide Has a Neuroprotective Effect on an Aged Rat Model of Wolfram Syndrome.Seppa, Kadri, et al.Nature News, Nature Publishing Group, 31 Oct. 2019 Current Landscape of Treatments for Wolfram Syndrome.Abreu, Damien, and Fumihiko Urano.Trends in Pharmacological Sciences, Elsevier Current Trends, 13 Aug. 2019 345-LB: Mesencephalic Astrocyte-Derived Neurotrophic Factor (MANF): A New Therapeutic Target for Wolfram Syndrome.Mahadevan, Jana, et al.Diabetes, American Diabetes Association, 1 June 2019 Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies.N. B., McMillan, et al.Case Reports in Endocrinology, Hindawi, 18 Apr. 2018 A Neurodegenerative Perspective on Mitochondrial Optic Neuropathies.Yu-Wai-Man, Patrick, et al.Acta Neuropathologica, Springer Berlin Heidelberg, Dec. 2016 Wolfram Syndrome: Diagnosis, Management, and Treatment.Urano, Fumihiko.Current Diabetes Reports, Springer US, Jan. 2016 A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.Lu S, et al Proc Natl Acad Sci U S A. 2014 Dec 9;111(49):E5292-301. β-Cell Dysfunction Due to Increased ER Stress in a Stem Cell Model of Wolfram Syndrome.Shang, Linshan, et al.Diabetes, American Diabetes Association, Mar. 2014 Wolfram Syndrome IPS Cells: The First Human Cell Model of Endoplasmic Reticulum Disease.Urano, Fumihiko.Diabetes, American Diabetes Association, 1 Mar. 2014 The Therapeutic Potential of Chemical Chaperones in Protein Folding Diseases.Cortez, Leonardo, and Valerie Sim.Prion, Landes Bioscience, 2014 Enhancing the Utility of Adeno-Associated Virus Gene Transfer through Inducible Tissue-Specific Expression.Chen, Shu-Jen, et al.Human Gene Therapy Methods, Mary Ann Liebert, Inc., Aug. 2013 Valproate, a Mood Stabilizer, Induces WFS1 Expression and Modulates Its Interaction with ER Stress Protein GRP94.Kakiuchi, Chihiro, et al.PLOS ONE, Public Library of Science, Jan,2009 Chemical Chaperones Reduce ER Stress and Restore Glucose Homeostasis in a Mouse Model of Type 2 Diabetes.Ozcan, Umut, et al.Science (New York, N.Y.), U.S. National Library of Medicine, 25 Aug. 2006 |
