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 […]
Publication: ncbi.nlm.nih.gov | Publication Date: March 31, 2014 Authors: Rammohan V Rao and Dale E Bredesen Abstract 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.
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, […]
Publication: diabetesjournals.org | Publication Date: June 1, 2020 Authors: Mary Katherine Ray, Tamara Hershey; Ling Chen, Neil H. White, Bess A. Marshall Wolfram Syndrome (WFS) is a rare, genetic, neurodegenerative disorder with associated features of diabetes mellitus (DM), diabetes insipidus, deafness, and optic atrophy. In order to design intervention studies, concrete markers of disease progression […]
Wolfram syndrome is a rare genetic disease with characteristic brain involvement. We reviewed the brain MR images of patients with Wolfram syndrome to determine the frequency and characteristics of common neuroradiologic findings.