Results 11 to 20 of about 5,423 (216)

WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype [PDF]

Orphanet Journal of Rare Diseases
Background Wolfram syndrome is a rare disease caused by the mutation of WFS1 gene, characterized as s spectrum of disorders. We aim to investigate the clinical features and pathogenic mechanisms of a WFS1 missense mutation inducing atypical phenotype ...
Mei Huang, Qianying Wei, Yao Qin, Lu Qin, Ying Shao, Suyu Wang, Xinyi Qu, Tao Yang, Mei Zhang   +8 more
doaj   +5 more sources

GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder [PDF]

Frontiers in Clinical Diabetes and Healthcare, 2023
WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe.
Eleonora Panfili, Giulio Frontino, Maria Teresa Pallotta   +2 more
doaj   +3 more sources

The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes

Scientific Reports, 2023
Diabetes is one of the most common phenotypes of Wolfram syndrome owing to the presence of the variants of the WFS1 gene and is often misdiagnosed as other types of diabetes.
Yating Li, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Simin Zhang, Yumin Ma, Yingying Luo, Lingli Zhou, Xiuying Zhang, Xiuting Huang, Xueying Gao, Mengdie Hu, Yufeng Li, Qian Ren, Yanai Wang, Xianghai Zhou, Xueyao Han, Linong Ji   +18 more
doaj   +3 more sources

Novel WFS1 variants are associated with different diabetes phenotypes

Frontiers in Genetics
BackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as ...
Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Qicheng Ni, Rulai Han, Rulai Han, Lei Ye, Lei Ye, Yifei Zhang, Yifei Zhang, Jie Hong, Jie Hong, Weiqing Wang, Weiqing Wang, Guang Ning, Guang Ning, Weiqiong Gu, Weiqiong Gu   +19 more
doaj   +4 more sources

Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1

Journal of Clinical Medicine
Background: Mutations in Wolfram syndrome 1 (WFS1) cause Wolfram syndrome and autosomal dominant non-syndromic hearing loss DFNA6/14/38. To date, more than 300 pathogenic variants of WFS1 have been identified.
Jo Jung, S. H. Jang, Dongju Won, H. Gee, J. Choi, Jinsei Jung   +5 more
semanticscholar   +4 more sources

Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila. [PDF]

PLoS Genetics, 2018
Wolfram syndrome (WS), caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1), is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations.
Yasufumi Sakakibara, Michiko Sekiya, Naoki Fujisaki, Xiuming Quan, Koichi M Iijima   +4 more
doaj   +2 more sources

Molecular Characterization of WFS1 in Patients with Wolfram Syndrome [PDF]

The Journal of Molecular Diagnostics, 2003
Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for Wolfram syndrome (WFS1) has been identified on the short
van den Ouweland, Johannes M.W., Cryns, Kim, Pennings, Ronald J.E., Walraven, Inge, Janssen, George M.C., Maassen, J. Antonie, Veldhuijzen, Bernard F.E., Arntzenius, Alexander B., Lindhout, Dick, Cremers, Cor W.R.J., Van Camp, Guy, Dikkeschei, Lambert D.   +11 more
openaire   +6 more sources

Selective proteasome degradation of C‐terminally‐truncated human WFS1 in pancreatic beta cells

FEBS Open Bio, 2023
Wolfram syndrome is a monogenic disease mainly caused by mutations in the WFS1 gene. Mutations in the WFS1 gene give rise to diabetes. Here, we characterized mutant WFS1 proteins by studying the stability of full‐length wild‐type (WT) WFS1, a missense ...
Hiraku Tokuma, Daisuke Sakano, Katsuya Tanabe, Yukio Tanizawa, Nobuaki Shiraki, Shoen Kume   +5 more
doaj   +2 more sources

Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice [PDF]

Frontiers in Molecular Neuroscience, 2015
BackgroundMutations in WFS1 gene cause Wolfram syndrome, which is a rare autosomal recessive disorder, characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Karin eTein, Sergo eKasvandik, Sulev eKõks, Eero eVasar, Anton eTerasmaa   +4 more
doaj   +2 more sources

Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production

Cell Death & Disease, 2023
Wolfram syndrome (WS) is a rare neurodegenerative disorder encompassing diabetes mellitus, diabetes insipidus, optic atrophy, hearing loss (HL) as well as neurological disorders.
Elodie M. Richard, E. Brun, Julia Korchagina, Lucie Crouzier, C. Affortit, Stacy Alves, C. Cazevieille, A. Mausset-Bonnefont, M. Lenoir, J. Puel, T. Maurice, M. Thiry, Jing Wang, B. Delprat   +13 more
semanticscholar   +5 more sources