Publication: ncbi.nlm.nih.gov | Publication Date: May 12, 2014 Authors: Leonardo Cortez and Valerie Sim Abstract Several neurodegenerative diseases are caused by defects in protein folding, including Alzheimer, Parkinson, Huntington, and prion diseases. Once a disease-specific protein misfolds, it can then form toxic aggregates which accumulate in the brain, leading to neuronal dysfunction, cell death, and […]
Publication: ncbi.nlm.nih.gov | Publication Date: August 25, 2006 Authors: Umut Özcan, Erkan Yilmaz, Lale Özcan, Masato Furuhashi, Eric Vaillancourt, Ross O. Smith, Cem Z. Görgün, and Gökhan S. Hotamisligil Abstract Endoplasmic reticulum (ER) stress is a key link between obesity, insulin resistance, and type 2 diabetes. Here, we provide evidence that this mechanistic link can […]
Recently published preclinical data demonstrate initial proof-of-concept for the therapeutic development of AMX0035 (sodium phenylbutyrate and taurursodiol) in Wolfram syndrome
Publication: eyehopefoundation.org | Publication Date: February 14, 2020 Authors: Professor Hamel Abstract A reliable mouse model of Wolfram syndrome with the visual degradation has been developed. Initial tests with AAV-drive gene therapy has shown promising results in those mice to partially rescue the vision of wolfram syndrome patients.
Publication: ncbi.nlm.nih.gov | Publication Date: July 29, 2013 Authors: Shu-Jen Chen, Julie Johnston, Arbans Sandhu, Lawrence T. Bish, Ruben Hovhannisyan, Odella Jno-Charles, H. Lee Sweeney, and James M. Wilson Abstract The ability to regulate both the timing and specificity of gene expression mediated by viral vectors will be important in maximizing its utility. We describe […]
Publication: nature.com | Publication Date: October 14, 2021 Authors: Cairns, G., Burté, F., Price, R. et al. Abstract Wolfram syndrome (WS) is an ultra-rare progressive neurodegenerative disorder defined by early-onset diabetes mellitus and optic atrophy. The majority of patients harbour recessive mutations in the WFS1 gene, which encodes for Wolframin, a transmembrane endoplasmic reticulum protein.
Publication: wolframsyndrome.wustl.edu | Publication Date: February 1, 2022 Authors: Fumihiko Urano Abstract We recently identified a WFS1 gene variant associated with a mild form of Wolfram syndrome in the Ashkenazi Jewish population. This WFS1 gene variant, WFS1 c.1672C>T (p.Arg558Cys) is prevalent in the Jewish population, and 1/30 Jewish people are carriers.
Publication: The Faseb Journal | Publication Date: April 15, 2020 Authors: Tom T. Fischer, Lien D. Nguyen, Barbara E. Ehrlich Abstract Wolfram syndrome (WS) is an orphan, autosomal recessive neuroendocrinological disease that affects approximately 1 in 500,000 people worldwide. Patients develop diabetes mellitus, diabetes insipidus, optical atrophy, and hearing loss and usually die in their […]
Publication: Science Translational Medicine | Publication Date: April 22, 2020 Authors: Kristina G. Maxwell, Punn Augsornworawat, Leonardo Velazco-Cruz, Michelle H. Kim, Rie Asada, Nathaniel J. Hogrebe, Shuntaro Morikawa, Fumihiko Urano, Jeffrey R. Millman Abstract Endoplasmic reticulum (ER) stress-mediated cell death is an emerging target for human chronic disorders, including neurodegeneration and diabetes. However, there is […]
Publication: PNAS.org | Publication Date: July 21, 2020 Authors: Lien D. Nguyen, Tom T. Fischer, Damien Abreu, Alfredo Arroyo, Fumihiko Urano, and Barbara E. Ehrlich Significance Wolfram syndrome is a rare multisystem disease characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness (DIDMOAD). It is primarily caused by mutations in the Wolfram syndrome […]