Calcium Signaling and Contractility in Cardiac Myocyte of Wolframin Deficient Rats [PDF]
Frontiers in Physiology, 2019 Wolframin (Wfs1) is a membrane protein of the sarco/endoplasmic reticulum. Wfs1 mutations are responsible for the Wolfram syndrome, characterized by diabetic and neurological symptoms. Although Wfs1 is expressed in cardiac muscle, its role in this tissue
Ivan Zahradník +2 more
exaly +7 more sources
The Impact of Mutations in Wolframin on Psychiatric Disorders [PDF]
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 +4 more
doaj +4 more sources
Genetics Influences Drug Consumption in Medication Overuse Headache, Not in Migraine: Evidence From Wolframin His611Arg Polymorphism Analysis [PDF]
Frontiers in Neurology, 2021 Background: The Wolframin His611Arg polymorphism can influence drug consumption in psychiatric patients with impulsive addictive behavior. This cross-sectional study aims to assess the prevalence of the Wolframin His611Arg polymorphism in MOH, a ...
Giorgio Di Lorenzo +2 more
exaly +5 more sources
Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees [PDF]
Journal of DiabetesBackground 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 +11 more
doaj +3 more sources
Wolframin Deficiency Is Accompanied With Metabolic Inflexibility in Rat Striated Muscles
Biochemistry and Biophysics Reports, 2022 The protein wolframin is localized in the membrane of the endoplasmic reticulum (ER), influencing Ca2+ metabolism and ER interaction with mitochondria, but the exact role of the protein remains unclear.
Tuuli Käämbre +2 more
exaly +5 more sources
Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort [PDF]
DiagnosticsBackground: 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 +2 more
doaj +2 more sources
Localization and distribution of wolframin in human female reproductive tract [PDF]
Italian Journal of Anatomy and Embryology, 2011 Wolframin, a transmembrane glycoprotein of endoplasmic reticulum consisting of 890 amino acids, is encoded by the WFS1 gene, mutated in the Wolfram syndrome. This pathology, also called DIDMOAD, is an autosomal recessive disorder defined by the association of diabetes mellitus, optic atrophy, and further organ abnormalities.
Lucariello, A +5 more
openaire +4 more sources
Proteomic dataset of wolframin-deficient mouse heart and skeletal muscles
Data in Brief, 2018 The data presented in this article are related to the research article entitled ''Increased Mitochondrial Protein Levels and Bioenergetics in the musculus rectus femoris of Wfs1-Deficient mice'' (Eimre et al., accepted for publication).
Margus Eimre +3 more
doaj +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 MedicineWolfram syndrome type 1 (WS1) is a rare genetic disorder characterized primarily by non-autoimmune diabetes mellitus, optic atrophy, deafness, and diabetes insipidus.
Amelia Caretto +13 more
doaj +2 more sources
Co-segregation of WFS1 p.Gly494Ser variant with recurrent vasovagal syncope in a multigenerational family: a candidate susceptibility variant needing independent validation [PDF]
Frontiers in PediatricsIntroductionVasovagal syncope (VVS) is the most prevalent subtype of reflex syncope. However, the genetic etiology underlying familial recurrent VVS has not been fully elucidated.MethodsWe recruited a multigenerational Chinese pedigree with three ...
Xinxin Guo +4 more
doaj +2 more sources