Results 1 to 10 of about 3,346,977 (142)

Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees [PDF]

Journal of Diabetes
Background Mutations in the WFS1 gene are implicated in Wolfram syndrome (WS), Wolfram‐like syndrome (WFLS), and maturity‐onset diabetes of the young (MODY).
ChangQing Liu, HangYu Fang, Dong Wang, YiPing Cheng, Ping Shi, ChunXiao Yu, XiaoHong Li, Hui Zhao, Wei Hou, ZhenKui Guo, Chao Xu, QingBo Guan   +11 more
doaj   +3 more sources

Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress [PDF]

Human Molecular Genetics, 2007
Wolfram syndrome, an autosomal recessive disorder characterized by diabetes mellitus and optic atrophy, is caused by mutations in the WFS1 gene encoding an endoplasmic reticulum (ER) membrane protein, Wolframin. Although its precise functions are unknown, Wolframin deficiency increases ER stress, impairs cell cycle progression and affects calcium ...
Guy Rutter, Gabriela da Silva Xavier, Timothy Barrett   +2 more
exaly   +4 more sources

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

Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort [PDF]

Diagnostics
Background: Wolfram syndrome (WS) is an ultrarare neuroendocrine disorder caused by pathogenic variants in WFS1, frequently leading to progressive neurological, autonomic, and cognitive impairment.
Gema Esteban-Bueno, Luisa-María Botella, Juan Luis Fernández-Martínez   +2 more
doaj   +2 more sources

Could R-Ketamine and Wolfram Syndrome Inform Understanding of Depression and Suicidality? A Sigma-1 Receptor-Based Perspective. [PDF]

Hum Psychopharmacol
ABSTRACT Loss of function mutations in the WFS1 gene cause Wolfram syndrome, which is characterized by juvenile‐onset diabetes mellitus, diabetes insipidus, neurodegeneration, hearing loss and optic nerve atrophy. Psychiatric symptoms, including major depression and suicidal behavior, are common in this disorder.
Kalkman HO, Smigielski L.
europepmc   +2 more sources

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein [PDF]

Human Molecular Genetics, 1998
Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy. Mitochondrial DNA deletions have been described in a few patients and a locus has been mapped to 4p16 by linkage analysis ...
Curt Scharfe, Thomas Meitinger, T M Strom   +2 more
exaly   +3 more sources

Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects [PDF]

Frontiers in Medicine
Wolfram syndrome type 1 (WS1) is a rare genetic disorder characterized primarily by non-autoimmune diabetes mellitus, optic atrophy, deafness, and diabetes insipidus.
Amelia Caretto, Francesca Scarascia Mugnozza, Fanny Valsecchi, Erika Pedone, Mirko Pozzoni, Susanna Rosa, Andrea Laurenzi, Andrea Laurenzi, Giulio Frontino, Raniero Chimienti, Raniero Chimienti, Lorenzo Piemonti, Lorenzo Piemonti, Marina Scavini   +13 more
doaj   +2 more sources

Topology of <i>WFS1</i> Variants Linked With Islet Function and Higher Risk of Urological Symptoms in <i>WFS1</i>-Associated Disease. [PDF]

Pediatr Diabetes
Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane (TM) structural protein (wolframin), is essential for several biological processes. Mutations of WFS1, autosomal dominant or recessive inherited, are related to a broad clinical spectrum. Molecular genetic tests were performed, and clinical phenotypes of three WFS1‐associated cases were
Zhang JJ, Dai TT, Wang JQ, Yin MY, Yang YY, Jiang L, Xia BJ, Cui ZZ, Lu WL, Hu RG, Li CY, Dong ZY, Xiao Y.   +12 more
europepmc   +2 more sources

Do wolframin, P-glycoprotein, and GRP78/BiP cooperate to alter the response of L1210 cells to endoplasmic reticulum stress or drug sensitivity? [PDF]

Cancer Cell International
In previous research, we revealed that murine leukemia cells L1210 with induced expression of P-glycoprotein (P-gp, a membrane drug transporter, product of the Abcb1 gene) are better able to withstand endoplasmic reticulum (ER) stress (ERS) than their P ...
Simona Kurekova, Lucia Pavlikova, Mario Seres, Viera Bohacova, Jana Spaldova, Albert Breier, Zdena Sulova   +6 more
doaj   +2 more sources

WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome [PDF]

Acta Neuropathologica Communications
Wolfram syndrome is a rare childhood neurodegenerative disease characterized by diabetes followed by severe and rapid optic atrophy leading to blindness before the age of 20.
Jolanta Jagodzinska, Marie Péquignot, Emmanuelle Sarzi, Mélanie Quiles, Chantal Cazevieille, Agnès Müller, Sulev Koks, Cécile Delettre   +7 more
doaj   +3 more sources