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ER Stress DiseasesLoss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells. Morikawa Shuntaro, Blacher Lindsey, Onwumere Chinyere, Urano Fumihiko. Frontiers in Endocrinology. Vol. 13. March, 2022. ER Stress-Sensor Proteins and ER-Mitochondrial Crosstalk—Signaling Beyond (ER) Stress Response. Vaishali Kumar, Shuvadeep Maity. Biomolecules. Vol. 11(2). Jan, 2021. Monogenic and syndromic diabetes due to endoplasmic reticulum stress. Stephen I. Stone, Damien Abreu, Janet B. McGill, Fumihiko Urano, Journal of Diabetes and its Complications, Vol. 35(1). 2021. MANF: A Novel Endoplasmic Reticulum Stress Response Protein—The Role in Neurological and Metabolic Disorders. Yang Yu, Dan-yang Liu, Xue-shen Chen, Ling Zhu, Li-hong Wan, Oxidative Medicine and Cellular Longevity. 2021. Regulation of the ER Stress Response by a Mitochondrial Microprotein. Chu, Q., Martinez, T.F., Novak, S.W. et al. Nat Commun. Oct, 2019. Small Molecules to Improve ER Proteostasis in Disease. Gonzalez-Teuber, Vicente, et al. Trends in Pharmacological Sciences. 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. Mar, 2019. Wolfram Syndrome: Diagnosis, Management, and Treatment. Urano, Fumihiko. Current Diabetes Reports. Jan, 2016. Small Molecular Allosteric Activator of the Sarco/Endoplasmic Reticulum Ca2+-ATPase (SERCA) Attenuates Diabetes and Metabolic Disorders. Kang S, Dahl R, Hsieh W, Shin A, Zsebo KM, Buettner C, Hajjar RJ, Lebeche D. J Biol Chem. Mar, 2016. The Impact of the Unfolded Protein Response on Human Disease. Wang, et al.Journal of Cell Biology, The Rockefeller University Press, June, 2012. Role of Endoplasmic Reticulum Stress in Metabolic Disease and Other Disorders.Ozcan, Lale, and Ira Tabas.Annual Review of Medicine. 2012. Endoplasmic Reticulum Stress and Glucose Homeostasis. Wagner, Martin, and David D Moore.Current Opinion in Clinical Nutrition and Metabolic Care. July, 2011. Endoplasmic-Reticulum Calcium Depletion and Disease. Mekahli, Djalila, et al. Cold Spring Harbor Perspectives in Biology. Vol 3(6). June, 2011. The Role for Endoplasmic Reticulum Stress in Diabetes Mellitus.Eizirik, Décio L, et al.Endocrine Reviews. Feb, 2008. Common Variants in WFS1 Confer Risk of Type 2 Diabetes. Sandhu, Manjinder S, et al.Nature Genetics. Aug, 2007. Misfolded Proteins, Endoplasmic Reticulum Stress and Neurodegeneration. Rao, Rammohan V, and Dale E Bredesen.Current Opinion in Cell Biology. Dec, 2004. |
Wolfram SyndromeThe Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies. Piero Barboni, Giulia Amore, Maria Lucia Cascavilla, Marco Battista, Giulio Frontino, Martina Romagnoli, Leonardo Caporali, Cristina Baldoli, Laura Ludovica Gramegna, Elisa Sessagesimi, Riccardo Bonfanti, Andrea Romagnoli, Roberta Scotti, Maria Brambati, Michele Carbonelli, Vincenzo Starace, Claudio Fiorini, Roberta Panebianco, Vincenzo Parisi, Caterina Tonon, Francesco Bandello, Valerio Carelli, Chiara La Morgia. American Journal of Ophthalmology. Vol 241. Sep, 2022. Dysregulated Ca2+ Homeostasis as a Central Theme in Neurodegeneration: Lessons from Alzheimer’s Disease and Wolfram Syndrome. Callens, M.; Loncke, J.; Bultynck, G. Cells. Vol. 11. Jun, 2022. Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes. Francesca Silvestri, Valeria Tromba, Francesco Costantino, Nila Palaniappan, Fumihiko Urano, AACE Clinical Case Reports, Vol 8(3). 2022. Wolfram Syndrome 1: From Genetics to Therapy.Rigoli L, Caruso V, Salzano G, Lombardo F. Int J Environ Res Public Health. Vol. 19. Mar, 2022. Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1. Salzano, G.; Rigoli, L.; Valenzise, M.; Chimenz, R.; Passanisi, S.; Lombardo, F. Int. J. Environ. Res. Public Health. Vol. 19(1). Jan, 2022. Multiomic analysis on human cell model of wolfram syndrome reveals changes in mitochondrial morphology and function. Zmyslowska A, Kuljanin M, Malachowska B, Stanczak M, Michalek D, Wlodarczyk A, Grot D, Taha J, Pawlik B, Lebiedzińska-Arciszewska M, Nieznanska H, Wieckowski MR, Rieske P, Mancias JD, Borowiec M, Mlynarski W, Fendler W. Cell Commun Signal. Vol 19. November, 2021. Longitudinal progression of diabetes mellitus in Wolfram syndrome: The Washington University Wolfram Research Clinic experience.Mary Katherine Ray, Ling Chen, Neil H. White, Richard Ni, Tamara Hershey, Bess A. Marshall. Pediatric Diabetes. Vol 23 (2), November, 2021. Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome. Sandra Pourtoy-Brasselet, Axel Sciauvaud, Maria-Gabriela Boza-Moran, Michel Cailleret, Margot Jarrige, Hélène Polvèche, Jérôme Polentes, Eric Chevet, Cécile Martinat, Marc Peschanski, Laetitia Aubry. The American Journal of Human Genetics. Vol. 108, (11). Nov, 2021. Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome. Ren et al. BMC Endocrine Disorders. Vol 21(166). August, 2021. Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations. Maurizio Delvecchio, Matteo Iacoviello, Antonino Pantaleo, Nicoletta Resta. Environmental Research and Public Health. Vol. 18 (9) April, 2021. Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation. Eleonora Panfili, Giada Mondanelli, Ciriana Orabona, Maria L Belladonna, Marco Gargaro, Francesca Fallarino, Elena Orecchini, Paolo Prontera, Elisa Proietti, Giulio Frontino, Eva Tirelli, Alberta Iacono, Carmine Vacca, Paolo Puccetti, Ursula Grohmann, Susanna Esposito, Maria T Pallotta, Human Molecular Genetics. Vol. 30, (3-4). Feb. 2021. Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review. La Valle, A.; Piccolo, G.; Maghnie, M.; d’Annunzio, G. Int. J. Environ. Res. Public Health. Vol 18. 2021. Serum 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 WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome. Kun Hu , Malgorzata Zatyka, Dewi Astuti, Nicola Beer , Renuka P Dias, Archana Kulkarni, John Ainsworth, Benjamin Wright, Anna Majander, Patrick Yu-Wai-Man, Denise Williams, Timothy Barrett. Journal Medical Genetics. Vol. 59. October, 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. Vol. 17, October, 2020. 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. Longitudinal Progression of Diabetes Mellitus in Wolfram Syndrome Ray, MK, Hershey, T, Chen, L, White, N, Marshall, B Diabetes. Vol. 69 (Supplement 1). June, 2020. Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome. La Morgia, C., Maresca, A., Amore, G. et al. Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome. Sci Rep. March, 2020. Taste and smell function in Wolfram syndrome.Alfaro R, Doty T, Narayanan A, Lugar H, Hershey T, Pepino MY. Orphanet J Rare Dis. Vol. 15 (1). Feb, 2020. 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. Vol 14(1). Dec, 2019. Sleep disturbances in Wolfram syndrome.Licis A, Davis G, Eisenstein SA, Lugar HM, Hershey T. Orphanet J Rare Dis. Vol 14 (1). Aug, 2019. 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. Vol. 9(1). Apr. 2019 Apr. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives.Pallotta, M.T., Tascini, G., Crispoldi, R. et al.J Transl Med. Vol. 17. 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. Vol. 200(5). Nov. 2018. ER-Mitochondria Cross-Talk Is Regulated by the Ca2+ Sensor NCS1 and Is Impaired in Wolfram Syndrome.Angebault, Claire, et al.Science Signaling. Oct, 2018. Longitudinal hearing loss in Wolfram syndrome. Karzon R, Narayanan A, Chen L, Lieu JEC, Hershey T. Orphanet J Rare Dis. Vol 13(1). Jun, 2018. Evidence for Altered Neurodevelopment and Neurodegeneration in Wolfram Syndrome Using Longitudinal Morphometry.Lugar, Heather M., et al. Nature News, Nature Publishing Group. 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. Oct. 2018. Wolfram Syndrome: MAMs' Connection? Delprat, B., Maurice, T. & Delettre, C. Cell Death Dis. Vol. 9. 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. Vol. 3(1). Jan, 2018. 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. Vol. 6. Feb, 2016. 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. Vol. 10. May, 2015. 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. 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. Journal of American Association for Pediatric Ophthalmology and Strabismus. Vol. 18(5). Oct, 2014. Phenotypic characteristics of early Wolfram syndrome.Marshall BA et al.Washington University Wolfram Study Group. Orphanet J Rare Dis. Vol. 8. Apr, 2013 Early presentation of gait impairment in Wolfram Syndrome. Pickett KA et al. Washington University Wolfram Study Group. Orphanet J Rare Dis. Vol. 7. Dec, 2012. Reliability and validity of the Wolfram Unified Rating Scale (WURS). Nguyen C et al. Washington University Wolfram Study Group. Orphanet J Rare Dis. Vol. 7. Nov, 2012. Early brain vulnerability in Wolfram syndrome. Hershey T, et al. Washington University Wolfram Study Group. PLoS One. Vol. 7. 2012. Balance impairment in individuals with Wolfram syndrome. Pickett KA et al. Washington University Wolfram Study Group. Gait Posture. Vol. 36(3). Jul, 2012. 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. Vol. 34(7). July, 2011 . |
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