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.
Publication: nature.com | Publication Date: January 26, 2021 Authors: Kadri Seppa, Toomas Jagomäe, Kaia Grete Kukker, Riin Reimets, Marko Pastak, Eero Vasar, Anton Terasmaa & Mario Plaas Abstract Wolfram syndrome (WS) is a monogenic progressive neurodegenerative disease and is characterized by various neurological symptoms, such as optic nerve atrophy, loss of vision, cognitive decline, memory […]
Publication: diabetesjournals.org | Publication Date: February 13, 2014 Authors: Fumihiko Urano Wolfram syndrome is a rare autosomal recessive genetic disorder with clinical signs apparent in early childhood. This condition is characterized by childhood-onset diabetes, optic nerve atrophy, deafness, diabetes insipidus, and neurodegeneration, and it results in death in middle adulthood.
Abstract Inherited optic neuropathies share visual impairment due to the degeneration of retinal ganglion cells (RGCs) as the hallmark of the disease. This group of genetic disorders are caused by mutations in nuclear genes or in the mitochondrial DNA (mtDNA).
Publication: Diabetologia | Publication Date: March 30, 2023 Authors: Vyron Gorgogietas, Bahareh Rajaei, Chae Heeyoung, Bruno J. Santacreu, Sandra Marín-Cañas, Paraskevi Salpea, Toshiaki Sawatani, Anyishai Musuaya, María N. Arroyo, Cristina Moreno-Castro, Khadija Benabdallah, Celine Demarez, Sanna Toivonen, Cristina Cosentino, Nathalie Pachera, Maria Lytrivi, Ying Cai, Lode Carnel, Cris Brown, Fumihiko Urano, Piero Marchetti, Patrick Gilon, […]
Publication: wolframsyndrome.wustl.edu | Publication Date: September 18, 2022 Authors: Fumihiko Urano I have some exciting updates on our gene therapy development. The root cause of Wolfram syndrome is pathogenic changes in the WFS1 gene. Therefore, correcting these changes in the WFS1 gene is the best way to treat Wolfram syndrome.
Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer’s Disease.