Results 51 to 60 of about 5,313 (208)

Liraglutide Treatment Reverses Unconventional Cellular Defects in Induced Pluripotent Stem Cell–Derived β-Cells Harboring a Partially Functional WFS1 Variant

Diabetes
Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by WFS1 variants that disrupt wolframin, an endoplasmic reticulum-associated protein essential for cellular stress responses, Ca2+ homeostasis, and autophagy.
Silvia Torchio, G. Siracusano, Federica Cuozzo, V. Zamarian, S. Pellegrini, Fabio Manenti, R. Bonfanti, G. Frontino, V. Sordi, Raniero Chimienti, L. Piemonti   +10 more
semanticscholar   +2 more sources

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

PLoS ONE, 2014
Wolfram syndrome is an early onset genetic disease (1/180,000) featuring diabetes mellitus and optic neuropathy, associated to mutations in the WFS1 gene.
Delphine Bonnet Wersinger, Nesrine Benkafadar, Jolanta Jagodzinska, Christian Hamel, Yukio Tanizawa, Guy Lenaers, Cécile Delettre   +6 more
doaj   +1 more source

Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome

JCI Insight, 2022
Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration.
Rie Asada Kitamura, Kristina G. Maxwell, Wenjuan Ye, Kelly Kries, Cris M. Brown, Punn Augsornworawat, Yoel Hirsch, Martin M. Johansson, Tzvi Weiden, Joseph Ekstein, Joshua Cohen, Justin Klee, Kent Leslie, Anton Simeonov, Mark J. Henderson, Jeffrey R. Millman, Fumihiko Urano   +16 more
doaj   +1 more source

The Impact of Mutations in Wolframin on Psychiatric Disorders

Frontiers in Pediatrics, 2021
Wolfram Syndrome is a rare autosomal recessive disease characterized by early-onset diabetes mellitus, neurodegeneration, and psychological disorders. Mutations in the gene WFS1, coding for the protein wolframin, cause Wolfram Syndrome and are associated
Saira Munshani, Eiman Y. Ibrahim, Eiman Y. Ibrahim, Ilaria Domenicano, Barbara E. Ehrlich   +4 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

Valproate, a mood stabilizer, induces WFS1 expression and modulates its interaction with ER stress protein GRP94. [PDF]

PLoS ONE, 2009
Valproate is a standard treatment for bipolar disorder and a first-line mood stabilizer. The molecular mechanisms underlying its actions in bipolar disorder are unclear.
Chihiro Kakiuchi, Shinsuke Ishigaki, Christine M Oslowski, Sonya G Fonseca, Tadafumi Kato, Fumihiko Urano   +5 more
doaj   +1 more source

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome. [PDF]

, 2021
BACKGROUND: Wolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most patients have variants in the WFS1 gene.
Hu, Kun, Beer, Nicola, Dias, Renuka P, Wright, Benjamin, Williams, Denise, Zatyka, Malgorzata, Yu-Wai-Man, Patrick, Zatyka, Malgorzata; id_orcid, Majander, Anna, Kulkarni, Archana, Ainsworth, John, Dias, Renuka P., Barrett, Timothy; id_orcid, Barrett, Timothy, Astuti, Dewi   +14 more
core   +3 more sources

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.

Survey of ophthalmology, 2023
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus.
C. de Muijnck, J. T. ten Brink, A. Bergen, C. Boon, M. V. van Genderen   +4 more
semanticscholar   +1 more source

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features. [PDF]

PLoS ONE, 2014
BACKGROUND: Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome.
Kimie Matsunaga, Katsuya Tanabe, Hiroshi Inoue, Shigeru Okuya, Yasuharu Ohta, Masaru Akiyama, Akihiko Taguchi, Yukari Kora, Naoko Okayama, Yuichiro Yamada, Yasuhiko Wada, Shin Amemiya, Shigetaka Sugihara, Yuzo Nakao, Yoshitomo Oka, Yukio Tanizawa   +15 more
doaj   +1 more source

Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells

Frontiers in Endocrinology, 2022
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration.
Shuntaro Morikawa, Shuntaro Morikawa, Lindsey Blacher, Chinyere Onwumere, Fumihiko Urano, Fumihiko Urano   +5 more
doaj   +1 more source