Wolfram syndrome is a rare, autosomal recessive syndrome characterised by juvenile-onset diabetes and optic atrophy and is caused by bi-allelic mutations in the WFS1 gene.
Publication: journals.plos.org | Publication Date: January 6, 2009 Authors: Chihiro Kakiuchi,Shinsuke Ishigaki,Christine M. Oslowski,Sonya G. Fonseca,Tadafumi Kato & Fumihiko Urano Abstract Background Valproate is a standard treatment for bipolar disorder and a first-line mood stabilizer. The molecular mechanisms underlying its actions in bipolar disorder are unclear. It has been suggested that the action of valproate […]
Publication: endocrine-abstracts.org | Publication Date: September 09, 2020 Authors: Mouna Sghir, Soumaya Elarem, Wafa Said, Aymen Haj Salah, Baha Zantour & Wassia Kessomtini Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus (non-autoimmune), Optic Atrophy, and Deafness.
Publication: endocrinology.wustl.edu | Publication Date: June 10, 2022 Authors: Morikawa, S., Blacher, L., Onwumere, C., & Urano F. On March 25, Fumihiko Urano, MD, PhD and colleagues had their research titled “Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells,” published in “Frontiers in Endocrinology.”
Publication: science.org | Publication Date: February 11, 2021 Authors: Mitch Leslie A Revealing Flaw: A rare disease that cripples a key cellular organelle holds clues to treating more common conditions. Abstract Maureen Marshall-Doss says the first sign that her vision was deteriorating came when she misidentified the color of a dress. At a backyard get-together […]
Publication: rupress.org | Publication Date: June 25, 2012 Authors: Shiyu Wang, Randal J. Kaufman A central function of the endoplasmic reticulum (ER) is to coordinate protein biosynthetic and secretory activities in the cell. Alterations in ER homeostasis cause accumulation of misfolded/unfolded proteins in the ER.
Publication: ncbi.nlm.nih.gov | Publication Date: July 1, 2012 Authors: Lale Ozcan and Ira Tabas Abstract Perturbations in the normal functions of the endoplasmic reticulum (ER) trigger a signaling network that coordinates adaptive and apoptotic responses. There is accumulating evidence implicating prolonged ER stress in the development and progression of many diseases, including neurodegeneration, atherosclerosis, type […]
Publication: sciendo.com | Publication Date: December 31, 2022 Authors: Angela M. Reiersen, Jacob S. Noel, Tasha Doty, Richa A. Sinkre, Anagha Narayanan and Tamara Hershey Background Wolfram Syndrome is a rare genetic disorder usually resulting from pathogenic variation in the WFS1 gene, which leads to an exaggerated endoplasmic reticulum (ER) stress response. The disorder is […]
Publication: nature.com | Publication Date: July 05, 2018 Authors: Maarja Toots, Kadri Seppa, Toomas Jagomäe, Tuuliki Koppel, Maia Pallase, Indrek Heinla, Anton Terasmaa, Mario Plaas & Eero Vasar Abstract Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in the WFS1 (Wolframin1) gene. The syndrome first manifests as diabetes mellitus, followed by […]
Publication: mdpi.com | Publication Date: August 12, 2020 Authors: Waszczykowska A, Zmysłowska A, Braun M, Ivask M, Koks S, Jurowski P, Młynarski W. Abstract Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness. It has been reported that the average retinal […]