Publication: ncbi.nlm.nih.gov | Publication Date: January 7, 2016 Authors: Fumihiko Urano Abstract The endoplasmic reticulum (ER) as an intracellular Ca2+ store not only sets up cytosolic Ca2+ signals, but, among other functions, also assembles and folds newly synthesized proteins. Alterations in ER homeostasis, including severe Ca2+ depletion, are an upstream event in the pathophysiology of many […]
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 Abstract 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 […]
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 Abstract 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 […]
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 Abstract Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by […]
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 […]
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 […]