Results 51 to 60 of about 5,423 (216)

WFS1 mutations in Spanish patients with diabetes mellitus and deafness [PDF]

European Journal of Human Genetics, 2002
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterised by early onset diabetes mellitus and progressive optic atrophy, as well as other clinical features such as deafness, diabetes insipida, renal tract abnormalities and diverse psychiatric illnesses. A gene responsible for WS was identified in 4p16.1 (WFS1).
Enric, Domènech, Montse, Gómez-Zaera, Virginia, Nunes   +2 more
openaire   +2 more sources

Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome [PDF]

, 2023
Mitochondrial dysfunction involving mitochondria-associated ER membrane (MAM) dysregulation is implicated in the pathogenesis of late-onset neurodegenerative diseases, but understanding is limited for rare early-onset conditions. Loss of the MAM-resident
Malgorzata Rak, Zatyka, Malgorzata, Correia, Joao, Rosenstock, Tatiana, Hughes, Georgina, Hoogenkamp, Maarten; id_orcid, Vesna Stanulovic, Ward, Douglas, Stanulovic, Vesna, Ward, Douglas G; id_orcid, Rosenstock, Tatiana R, Tatiana R. Rosenstock, Palhegyi, Adina, Hoogenkamp, Maarten, Hughes, Georgina W, Korsgen, Miriam E, Thiago Varga, Kocak, Gamze, Congxin Sun, Maarten Hoogenkamp, Laetitia Aubry, Aubry, Laetitia, Dewi Astuti, Barrett, Timothy; id_orcid, Margot Jarrige, Polvèche, Hélène, Barrett, Timothy, Miriam E. Korsgen, Gamze Kocak, Eva-Maria Frickel, Malgorzata Zatyka, Lara-Reyna, Samuel; id_orcid, Frickel, Eva-Maria, Sciauvaud, Axel, Varga, Thiago, Georgina W. Hughes, Zatyka, Malgorzata; id_orcid, Kocak, Gamze; id_orcid, Adina M. Palhegyi, Rak, Malgorzata, di Maio, Alessandro, Axel Sciauvaud, Sarkar, Sovan, Sandra Pourtoy-Brasselet, Katherine Winter, Jarrige, Margot, Alessandro di Maio, Samuel Lara-Reyna, Korsgen, Miriam, Sun, Congxin, Hélène Polvèche, Lara-Reyna, Samuel, Timothy Barrett, Douglas G. Ward, Sovan Sarkar, Joao Correia, Palhegyi, Adina M, Pourtoy-Brasselet, Sandra, Astuti, Dewi, Winter, Katherine   +59 more
core   +1 more source

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

Wfs1 and Related Molecules as Key Candidate Genes in the Hippocampus of Depression [PDF]

Frontiers in Genetics, 2021
BackgroundDepression is a prevalent mental disorder, which is difficult to diagnose and treat due to its unclear pathogenic mechanisms. The discovery of novel and effective therapeutic targets for depression is urgently needed. The hippocampus is a crucial region involved in depression and has been a therapeutic target for many antidepressants.
Jing Yang, Chaoqin Chen, Xiaoyuan Jin, Lu Liu, Jiajia Lin, Xianhui Kang, Shengmei Zhu   +6 more
openaire   +3 more sources

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

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

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations. [PDF]

Clin Genet
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Diogo-Cavassana S, Alencar-Coutinho D, Abreu-Oberhuber R, Paramo-Neto ME, Oiticica J, Bento RF, Batissoco AC, Lezirovitz K.   +7 more
europepmc   +2 more sources

Wfs1 deficiency dampens locomotor rhythm in aged flies.

, 2023
Wfs1 deficiency dampens locomotor rhythm in aged flies.
Huanfeng Hao (16484819), Li Song (34475), Luoying Zhang (223659)   +2 more
core   +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