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
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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
Michal Cagalinec +19 more
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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 +4 more
doaj +2 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
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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
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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
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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.
Kersti Tepp +9 more
doaj +3 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 InternationalIn 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 +6 more
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WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome [PDF]
Acta Neuropathologica CommunicationsWolfram 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 +7 more
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Novel WFS1 variants are associated with different diabetes phenotypes [PDF]
Frontiers in GeneticsBackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as ...
Lei Wu +19 more
doaj +2 more sources