Publication: pubmed.ncbi.nlm.nih.gov | Publication Date: July 14, 2011
Authors: Damien Abreu, Rie Asada, John M. P. Revilla, Zeno Lavagnino, Kelly Kries, David W. Piston & Fumihiko Urano
Purpose of review: Balancing glucose homeostasis is crucial to maintain appropriate energy and metabolic state. Chronic hyperglycemia with insulin resistance and development of type II diabetes mellitus is a growing health and health-economic threat. Read more
Publication: ncbi.nlm.nih.gov | Publication Date: September 30, 2016
Authors: Patrick Yu-Wai-Man, Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, and Valerio Carelli
Mitochondrial optic neuropathies constitute an important cause of chronic visual morbidity and registrable blindness in both the paediatric and adult population. It is a genetically heterogeneous group of disorders caused by both mitochondrial DNA (mtDNA) mutations and a growing list of nuclear genetic defects that invariably affect a critical component of the mitochondrial machinery. Read more
Publication: ncbi.nlm.nih.gov | Publication Date: February 13, 2014
Authors: Linshan Shang, Haiqing Hua, Kylie Foo, Hector Martinez, Kazuhisa Watanabe, Matthew Zimmer, David J. Kahler, Matthew Freeby, Wendy Chung, Charles LeDuc, Robin Goland, Rudolph L. Leibel, and Dieter Egli
Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by insulin-dependent diabetes mellitus, optic atrophy, and deafness. To investigate the cause of β-cell failure, we used induced pluripotent stem cells to create insulin-producing cells from individuals with Wolfram syndrome. Read more
Publication: ncbi.nlm.nih.gov | Publication Date: April 23, 2009
Authors: Manjinder S Sandhu, Michael N Weedon, Katherine A Fawcett, Jon Wasson, Sally L Debenham, Allan Daly, Hana Lango, Timothy M Frayling, Rosalind J Neumann, Richard Sherva, Ilana Blech, Paul D Pharoah, Colin N A Palmer, Charlotte Kimber, Roger Tavendale, Andrew D Morris, Mark I McCarthy, Mark Walker, Graham Hitman, Benjamin Glaser, M Alan Permutt, Andrew T Hattersley, Nicholas J Wareham and Inês Barroso
We studied genes involved in pancreatic β cell function and survival, identifying associations between SNPs in WFS1 and diabetes risk in UK populations that we replicated in an Ashkenazi population and in additional UK studies. Read more
Publication: ncbi.nlm.nih.gov | Publication Date: May 12, 2014
Authors: Leonardo Cortez and Valerie Sim
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 clinical symptoms. Read more
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
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 be exploited for therapeutic purposes with orally active chemical chaperones. Read more
Publication: amylyx.com | Publication Date: April 13, 2023
Authors: Amylyx Media Team
CAMBRIDGE, Mass.–(BUSINESS WIRE)– Amylyx Pharmaceuticals, Inc. (NASDAQ: AMLX) (“Amylyx” or the “Company”) today announced that the first participant has been dosed in the HELIOS study, a Phase 2 clinical trial of AMX0035 (sodium phenylbutyrate [PB] and taurursodiol [TURSO]) for the treatment of Wolfram syndrome (WS).
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Publication: eyehopefoundation.org | Publication Date: February 14, 2020
Authors: Professor Hamel
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. Read more
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
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 the development of an adeno-associated virus (AAV)-based vector with tissue-specific gene regulation, using the ARGENT dimerizer-inducible system. Read more
Publication: nature.com | Publication Date: October 14, 2021
Authors: Cairns, G., Burté, F., Price, R. et al.
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. 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
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