Results 41 to 50 of about 5,423 (216)

WFS1 Deficiency Impairs PIAS4-Associated SUMOylation and Increases Ubiquitin-Mediated Spermatogenesis-Related Protein Degradation Leading to Testicular Male Infertility. [PDF]

Adv Sci (Weinh)
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Tian Y, Zhao G, Wang X, Tang X, Shen G, Ruan T, Jiang C, Zhao S, Zhang J, Cui X, Zhuo L, Ma J, Yang Y, Lin T, Shen Y.   +14 more
europepmc   +2 more sources

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy. [PDF]

Clin Genet
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Johannesen KM, Grønskov K, Kessel L, Holstein SLV, Møller LB, Andersen MKG, Khinchi MS, Hamann S, Wegener M, Bertelsen M.   +9 more
europepmc   +2 more sources

Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis.

PLoS Genetics, 2023
Sleep disruptions are quite common in psychological disorders, but the underlying mechanism remains obscure. Wolfram syndrome 1 (WS1) is an autosomal recessive disease mainly characterized by diabetes insipidus/mellitus, neurodegeneration and ...
Huanfeng Hao, Li Song, Luoying Zhang
doaj   +1 more source

Multiple Retinal Anomalies in Wfs1-Deficient Mice [PDF]

Diagnostics, 2020
Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness. It has been reported that the average retinal thickness in WFS patients decreases with the progression of the disease.
Arleta Waszczykowska, Agnieszka Zmysłowska, Marcin Braun, Marilin Ivask, Sulev Koks, Piotr Jurowski, Wojciech Młynarski   +6 more
openaire   +3 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

Recent advances in pancreatic β-cell dysfunction in type 2 diabetes mellitus: Intracellular stress and dedifferentiation. [PDF]

J Diabetes Investig
Journal of Diabetes Investigation, Volume 17, Issue 8, Page 1254-1256, August 2026.
Kido N, Asahara SI.
europepmc   +2 more sources

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

Frontiers in Endocrinology, 2023
AimsWolfram Syndrome Spectrum Disorder (WFS1-SD), in its “classic” form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum.
Giulio Frontino, Giulio Frontino, Raffaella Di Tonno, Raffaella Di Tonno, Marianna Rita Stancampiano, Marianna Rita Stancampiano, Francesca Arrigoni, Francesca Arrigoni, Andrea Rigamonti, Andrea Rigamonti, Elisa Morotti, Elisa Morotti, Daniele Canarutto, Daniele Canarutto, Riccardo Bonfanti, Riccardo Bonfanti, Riccardo Bonfanti, Gianni Russo, Graziano Barera, Lorenzo Piemonti, Lorenzo Piemonti   +20 more
doaj   +1 more source

Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss [PDF]

Iranian Journal of Otorhinolaryngology, 2021
Introduction: Sensorineural hearing loss is the most frequent type of hearing impairment in the human population. Genetic factors account for over 60% of hearing loss in patients. This is a genetically heterogeneous sensorineural disorder.   Case Report:
Javad Mohammadi Asl, Nader Saki, Masoud Dehdashtiyan, Mostafa Neissi, Farideh Ghanbari Mardasi   +4 more
doaj   +1 more source

A novelWFS1variant associated with isolated congenital cataracts

Molecular Case Studies, 2023
Biallelic variants in theWFS1gene are associated with Wolfram syndrome. However, recent publications document that heterozygous variants can lead to a variety of phenotypes, such as Wolfram-like syndrome or isolated features of Wolfram syndrome. In this case report, we present a male patient with a history of congenital cataracts and subjective ...
Angela Krutish, James Elmore, Werner Ilse, Janine L. Johnston, Dustin Hittel, Marina Kerr, Aneal Khan, Cheryl Rockman-Greenberg, Aizeddin A. Mhanni   +8 more
openaire   +2 more sources

Analysis of metabolic effects of menthol on WFS1-deficient mice [PDF]

Physiological Reports, 2016
In this study, we investigated the physiological regulation of energy metabolism in wild-type (WT) and WFS1-deficient (Wfs1KO) mice by measuring the effects of menthol treatment on the O2 consumption, CO2 production, rectal body temperature, and heat production.
Ehrlich, M., Ivask, M., Raasmaja, A., Kõks, S.   +3 more
openaire   +3 more sources