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. Read more
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.” Read more
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.
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 about 20 years ago, the Indianapolis resident pointed out an attractive yellow dress another woman was wearing. “You see that as yellow? She’s wearing a pink dress,” Marshall-Doss recalls her husband responding. Read more
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. Read more
Publication: ncbi.nlm.nih.gov | Publication Date: July 1, 2012
Authors: Lale Ozcan and Ira Tabas
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 2 diabetes, liver disease, and cancer. Read more
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
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 typically characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy, hearing loss, and neurodegenerative features. Existing literature suggests it may also have psychiatric manifestations.
Read more
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
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 optic nerve atrophy, deafness, and neurodegeneration. Read more
Publication: mdpi.com | Publication Date: August 12, 2020
Authors: Waszczykowska A, Zmysłowska A, Braun M, Ivask M, Koks S, Jurowski P, Młynarski W.
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 thickness in WFS patients decreases with the progression of the disease. Read more
Publication: ncbi.nlm.nih.gov | Publication Date: March 31, 2014
Authors: Rammohan V Rao and Dale E Bredesen
The accumulation of misfolded proteins (e.g. mutant or damaged proteins) triggers cellular stress responses that protect cells against the toxic buildup of such proteins. Read more
Publication: neurology.org | Publication Date: March 19, 2021
Authors: Adi Wilf-Yarkoni, MD, MSc, Oded Shor, PhD, Avi Fellner, MD, Mark Andrew Hellmann, MD, Elon Pras, MD, Hagit Yonath, MD, Shiri Shkedi-Rafid, PhD, Lina Basel-Salmon, MD, PhD, Lili Bazak, PhD, Ruth Eliahou, MD, Lior Greenbaum, MD, PhD, Hadas Stiebel-Kalish, MD, Felix Benninger, MD and Yael Goldberg, MD
To describe the WFS1 c.1672C>T; p.R558C missense variant, found in 1.34% of Ashkenazi Jews, that has a relatively mild phenotype and to use computational normal mode analysis (NMA) to explain the genotype-phenotype relationship. Read more
The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss and neurodegeneration.
P.O. Box 50224 Clayton, MO 63105
(402) 694-1354