Results 41 to 50 of about 3,346,977 (142)

A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay

Scientific Reports, 2021
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 ...
G. Cairns, F. Burté, R. Price, E. O’Connor, M. Toms, R. Mishra, M. Moosajee, A. Pyle, J. A. Sayer, P. Yu-Wai-Man   +9 more
doaj   +1 more source

The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians

Frontiers in Endocrinology, 2023
The Wolfram syndrome 1 gene (WFS1) is the main causative locus for Wolfram syndrome, an inherited condition characterized by childhood-onset diabetes mellitus, optic atrophy, and deafness.
Maha M. Hammad, Maha M. Hammad, Mohamed Abu-Farha, Prashantha Hebbar, Emil Anoop, Betty Chandy, Motasem Melhem, Arshad Channanath, Fahd Al-Mulla, Thangavel Alphonse Thanaraj, Jehad Abubaker   +10 more
doaj   +1 more source

Maternal stress induced endoplasmic reticulum stress and impaired pancreatic islets’ insulin secretion via glucocorticoid receptor upregulation in adult male rat offspring

Scientific Reports, 2022
Exposure to perinatal (prenatal and/or postnatal) stress is considered as a risk factor for metabolic disorders in later life. Accordingly, this study aimed to investigate the perinatal stress effects on the pancreatic endoplasmic reticulum (ER) stress ...
Mina Salimi, Farzaneh Eskandari, Fateme Binayi, Afsaneh Eliassi, Hossein Ghanbarian, Mehdi Hedayati, Javad Fahanik-babaei, Mohamad Eftekhary, ‬Rana Keyhanmanesh, Homeira Zardooz   +9 more
doaj   +1 more source

Identification and Characterization of Wolframin, the Product of the Wolfram Syndrome Gene (WFS1), as a Novel Calmodulin-Binding Protein

, 2016
To search for calmodulin (CaM) targets, we performed affinity chromatography purification of a rat brain extract using CaM fused with GST as the affinity ligand. Proteomic analysis was then carried out to identify CaM-binding proteins.
Naoya Hatano (2166427), Tsutomu Masaki (121136), Ryoji Kobayashi (2166424), Saki Yurimoto (2166421), Tomohito Fujimoto (1576618), Mitsumasa Tsuchiya (2375983), Kiyohito Kato (2375980), Hiroshi Tokumitsu (1576615)   +7 more
core   +2 more sources

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1

BMC Endocrine Disorders, 2021
Background Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Yingying Gong, Li Xiong, Xiujun Li, Lei Su, Haipeng Xiao   +4 more
doaj   +1 more source

Hsp90 Breaks the Deadlock of the Hsp70 Chaperone System [PDF]

, 2018
Protein folding in the cell requires ATP-driven chaperone machines such as the conserved Hsp70 and Hsp90. It is enigmatic how these machines fold proteins.
Mayer, Matthias, Sub Cellular Protein Chemistry, Kityk, R., Rüdiger, S.G.D., Morán Luengo, T., Cellular Protein Chemistry   +5 more
core   +2 more sources

Wolfram syndrome: new mutations, different phenotype. [PDF]

PLoS ONE, 2012
BACKGROUND: Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD".
Concetta Aloi, Alessandro Salina, Lorenzo Pasquali, Francesca Lugani, Katia Perri, Chiara Russo, Ramona Tallone, Gian Marco Ghiggeri, Renata Lorini, Giuseppe d'Annunzio   +9 more
doaj   +1 more source

Expressed protein ligation for a large dimeric protein [PDF]

, 2011
Expressed protein ligation (EPL) is a protein engineering tool for post-translational ligation of protein or peptide fragments. This technique allows modification of specific parts of proteins, opening possibilities for incorporating probes for ...
NMR Spectroscopy, Karagöz, G.E., Sub Cellular Protein Chemistry, O. Hsieh, Sub NMR Spectroscopy, T. Sinnige, Rüdiger, S.G.D., Hsieh, O., Sinnige, T, G. E. Karagoz, S. G. D. Rudiger, Cellular Protein Chemistry   +11 more
core   +1 more source

Redirecting Alzheimer's disease therapeutics: Multitarget drugs and complementary non‐pharmacological strategies

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder driven by intersecting pathological processes. Persistent attrition in AD drug‐development pipelines highlights the limited clinical impact of single‐target therapies and has increased interest in multi‐target approaches acting on shared biological hubs.
Humberto Martínez‐Orozco, Jesús Andrade‐Guerrero, Nelly Jovana Pastén‐Castrejón, Chryslaine Rodríguez‐Tanty, Sofía Y Diaz‐Miranda   +4 more
wiley   +1 more source

Pyramidalization of the Glycosidic Nitrogen Provides the Way for Efficient Cleavage of the N‑Glycosidic Bond of 8‑OxoG with the hOGG1 DNA Repair Protein [PDF]

, 2012
A mechanistic pathway for cleavage of the N-glycosidic bond of 8-oxo-2′-deoxyguanosine (oxoG) catalyzed with the human 8-oxoguanine glycosylase 1 DNA repair protein (hOGG1) is proposed in this theoretical study. The reaction scheme suggests direct proton
Sychrovský, V., Sub Cellular Protein Chemistry, Sebera, J., Tanaka, Y., Trantirek, L., Cellular Protein Chemistry   +5 more
core   +1 more source