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

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Human Molecular Genetics

• Publication date

  2007-10-06

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/DDM296PMID 17947299PMCID PMC6101208
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Common variants in WFS1 confer risk of type 2 diabetes

  2007cited by this paper
• Endoplasmic reticulum stress contributes to beta cell apoptosis in type 2 diabetes

  2007cited by this paper
• Glucose regulated proteins 78 protects insulinoma cells (NIT-1) from death induced by streptozotocin, cytokines or cytotoxic T lymphocytes.

  2007cited by this paper
• WFS1 protein modulates the free Ca2+ concentration in the endoplasmic reticulum

  2006cited by this paper
• The characterisation of the human Wolfram syndrome gene promoter demonstrating regulation by Sp1 and Sp3 transcription factors.

  2006cited by this paper
• Wolfram syndrome‐associated mutations lead to instability and proteasomal degradation of wolframin

  2006cited by this paper
• WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells.

  2006cited by this paper
• Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis

  2005influential reference
• Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation.

  2005cited by this paper
• WFS1 Is a Novel Component of the Unfolded Protein Response and Maintains Homeostasis of the Endoplasmic Reticulum in Pancreatic β-Cells*

  2005influential reference
• Global prevalence of diabetes: estimates for the year 2000 and projections for 2030.

  2004cited by this paper
• Endoplasmic reticulum stress and N-glycosylation modulate expression of WFS1 protein.

  2004cited by this paper
• C-peptide, Na+,K+-ATPase, and Diabetes

  2004cited by this paper
• Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion.

  2004cited by this paper
• Wolframin Expression Induces Novel Ion Channel Activity in Endoplasmic Reticulum Membranes and Increases Intracellular Calcium*

  2003cited by this paper
• Transient association of the sarcoplasmic reticulum Ca2+ ATPase with the Na+/K+-ATPase and H+/K+-ATPase β-subunits during its biogenesis in Xenopus oocytes

  2003cited by this paper
• Impact of Endoplasmic Reticulum Stress Pathway on Pancreatic β-Cells and Diabetes Mellitus

  2003influential reference
• Cell Signaling Microdomain with Na,K-ATPase and Inositol 1,4,5-Trisphosphate Receptor Generates Calcium Oscillations*

  2003cited by this paper
• Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.

  2003influential reference
• Endoplasmic reticulum stress and the development of diabetes: a review.

  2002cited by this paper
• Endoplasmic reticulum stress-mediated apoptosis in pancreatic beta-cells.

  2002cited by this paper
• Endoplasmic reticulum stress-mediated apoptosis in pancreatic β-cells

  2002cited by this paper
• The functional role of beta subunits in oligomeric P-type ATPases.

  2001cited by this paper
• The Functional Role of β Subunits in Oligomeric P-Type ATPases

  2001cited by this paper
• WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain.

  2001influential reference
• Identification of ERSE-II, a New cis-Acting Element Responsible for the ATF6-dependent Mammalian Unfolded Protein Response*

  2001cited by this paper
• Endoplasmic reticulum quality control of oligomeric membrane proteins: topogenic determinants involved in the degradation of the unassembled Na,K-ATPase alpha subunit and in its stabilization by beta subunit assembly.

  2000cited by this paper
• beta-subunit assembly is essential for the correct packing and the stable membrane insertion of the H,K-ATPase alpha-subunit.

  1999cited by this paper
• β-Subunit Assembly Is Essential for the Correct Packing and the Stable Membrane Insertion of the H,K-ATPase α-Subunit*

  1999cited by this paper
• Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

  1999cited by this paper
• The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2.

  1998cited by this paper
• Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

  1998cited by this paper
• Ouabain suppresses ATP elevation in response to fuel secretagogues in pancreatic islets.

  1998cited by this paper
• A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

  1998cited by this paper
• Identification of the cis-Acting Endoplasmic Reticulum Stress Response Element Responsible for Transcriptional Induction of Mammalian Glucose-regulated Proteins

  1998cited by this paper
• Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

  1995cited by this paper
• Subunit assembly and functional maturation of Na,K-ATPase

  1990cited by this paper

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

  2025cites this paper
• Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer.

  2025cites this paper
• Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease

  2025cites this paper
• Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome

  2025cites this paper
• Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy

  2025cites this paper
• Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1

  2024cites this paper
• Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease

  2024cites this paper
• Wolfram Syndrome Type I Case Report and Review—Focus on Early Diagnosis and Genetic Variants

  2024cites this paper
• Astrocyte-mediated regulation of BLAWFS1 neurons alleviates risk-assessment deficits in DISC1-N mice.

  2024cites this paper
• Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments

  2024cites this paper
• Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production

  2023cites this paper
• Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

  2023cites this paper
• Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes

  2023cites this paper
• WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome

  2023cites this paper
• Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches

  2023cites this paper
• Genomics of Wolfram Syndrome 1 (WFS1)

  2023cites this paper
• GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models

  2023cites this paper
• Wolframin deficiency is accompanied with metabolic inflexibility in rat striated muscles

  2022cites this paper
• Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness

  2022cites this paper
• Depolarization of astrocytes in the basolateral amygdala restores WFS1 neuronal activity and rescues impaired risk-avoidance behavior in DISC1TM mice

  2022cites this paper
• MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice

  2022cites this paper
• AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss

  2022cites this paper
• Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes.

  2021cites this paper
• Maturation of the Na,K-ATPase in the Endoplasmic Reticulum in Health and Disease

  2021cites this paper
• Uniting the divergent Wolfram syndrome–linked proteins WFS1 and CISD2 as modulators of Ca2+ signaling

  2021cites this paper
• Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders

  2021cites this paper
• The Na+, K+-ATPase β1 subunit regulates epithelial tight junctions via MRCKα

  2021cites this paper
• Endoplasmic reticulum stress as target for treatment of hearing loss

  2020cites this paper
• Lack of functional wolframin causes drop in plasmalemmal sodium-calcium exchanger type 1 expression at early stage in rat model of Wolfram syndrome.

  2020cites this paper
• Wolfram Syndrome: a Monogenic Model to Study Diabetes Mellitus and Neurodegeneration.

  2020cites this paper
• Corneal abnormalities are novel clinical feature in Wolfram syndrome.

  2020cites this paper
• Adaptation of striated muscles to Wolframin deficiency in mice: Alterations in cellular bioenergetics.

  2020cites this paper
• The role of oxidative stress in Wolfram syndrome 1 and hypothermia

  2019cites this paper
• The profibrotic effect of downregulated Na,K‑ATPase β1 subunit in alveolar epithelial cells during lung fibrosis.

  2019cites this paper
• Wfs 1 Is Expressed In Dopaminoceptive Regions Of The Amniote Brain And Modulates Levels Of D 1-Like Receptors

  2019cites this paper
• The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing

  2019cites this paper
• Fluoride Exposure Induces Inhibition of Sodium-and Potassium-Activated Adenosine Triphosphatase (Na+, K+-ATPase) Enzyme Activity: Molecular Mechanisms and Implications for Public Health

  2019cites this paper
• Functional Innovation in the Evolution of the Calcium-Dependent System of the Eukaryotic Endoplasmic Reticulum

  2019cites this paper
• Spectrum of Mutations in WFS1 Gene in Six Families with Wolfram Syndrome: Identification of Five Novel Mutations

  2018cites this paper
• Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice.

  2018cites this paper
• Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1

  2018cites this paper
• Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling.

  2018cites this paper
• Endoplasmic Reticulum Stress in Hearing Loss

  2017cites this paper
• Stress hypERactivation in the beta-cell Stress hypERactivation in the beta-cell

  2017cites this paper
• Disturbed interactions between mitochondria and the endoplasmic reticulum : implications for human disease

  2017cites this paper
• Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice

  2017cites this paper
• Wfs1 is expressed in dopaminoceptive regions of the amniote brain and modulates levels of D1-like receptors

  2017cites this paper
• Molecular and genetic basis of inherited optic neuropathies

  2016cites this paper
• Pathophysiology and gene therapy of the optic neuropathy in Wolfram Syndrome

  2016cites this paper
• Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.

  2015cites this paper
• Calcium Dependent Regulatory Mechanism inWolfram Syndrome: A Dissertation

  2015cites this paper
• Wolfram Syndrome: Report of Three Siblings with Early Vision Loss and Documented Lesion of the Entire Visual Pathway

  2015cites this paper
• Wfs1‐deficient animals have brain‐region‐specific changes of Na+, K+‐ATPase activity and mRNA expression of α1 and β1 subunits

  2015cites this paper
• A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome

  2015cites this paper
• Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1

  2015cites this paper
• Pharmacological and behavioral characterization of the monoaminergic and GABAergic systems of Wfs 1-deficient mice

  2015cites this paper
• Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all‐frequencies

  2014cites this paper
• TARTU ÜLIKOOL LOODUS- JA TEHNOLOOGIATEADUSKOND MOLEKULAAR- JA RAKUBIOLOOGIA INSTITUUT

  2014cites this paper
• LOODUS- JA TEHNOLOOGIATEADUSKOND MOLEKULAAR- JA RAKUBIOLOOGIA INSTITUUT

  2014cites this paper
• A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome

  2014cites this paper
• A crosstalk between p21 and UPR-induced transcription factor C/EBP homologous protein (CHOP) linked to type 2 diabetes.

  2014cites this paper
• A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

  2014influential citation
• Pdx-1 modulates endoplasmic reticulum calcium homeostasis in the islet beta cell via transcriptional enhancement of SERCA2b

  2014cites this paper
• LOODUS- JA TEHNOLOOGIATEADUSKOND MOLEKULAAR- JA RAKUBIOLOOGIA INSTITUUT ARENGUBIOLOOGIA ÕPPETOOL

  2013cites this paper
• Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability.

  2013cites this paper
• Vesicular nucleotide transporter regulates the nucleotide content in airway epithelial mucin granules.

  2013cites this paper
• Study of Wolfram Syndrome in neuronal cell models

  2013cites this paper
• LOODUS- JA TEHNOLOOGIATEADUSKOND MOLEKULAAR- JA RAKUBIOLOOGIA INSTITUUT ARSTITEADUSKOND

  2013cites this paper
• Mutation analysis of Wolfram syndrome patients and functional study of the wolframin protein

  2013cites this paper
• Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss.

  2013cites this paper
• Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

  2012cites this paper
• Molecular and phenotypic characterization of Ire 1 α gene deletion in mouse embryo fibroblasts and pancreatic β cells

  2012cites this paper
• Comorbidity of GJB2 and WFS1 mutations in one family.

  2012cites this paper
• Endoplasmic reticulum stress, obesity and diabetes.

  2012cites this paper
• First phase insulin secretion and type 2 diabetes.

  2012cites this paper
• Neurexin-1α Contributes to Insulin-containing Secretory Granule Docking*

  2012cites this paper
• Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility

  2012cites this paper
• Endoplasmic Reticulum Stress in the β-Cell Pathogenesis of Type 2 Diabetes

  2011cites this paper
• Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells.

  2011cites this paper
• Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

  2011cites this paper
• Impaired striatal dopamine output of homozygous Wfs1 mutant mice in response to [K+] challenge

  2011cites this paper
• Neurologic features and genotype‐phenotype correlation in Wolfram syndrome

  2011cites this paper
• Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

  2011cites this paper
• Novel mutations of wolframin: a report with a look at the protein structure

  2011cites this paper
• The Human Splice Variant Δ16HER2 Induces Rapid Tumor Onset in a Reporter Transgenic Mouse

  2011cites this paper
• Wolfram syndrome and WFS1 gene

  2011cites this paper
• SILVA SÜTT Role of endocannabinoid system and Wfs1 in regulation of emotional behaviour: behavioural, pharmacological and genetic studies

  2010cites this paper
• Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies

  2010cites this paper
• A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients.

  2010cites this paper
• The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells

  2010cites this paper
• Stress hypERactivation in the β-cell

  2010cites this paper
• N-glycan-dependent quality control of the Na,K-ATPase beta(2) subunit.

  2010cites this paper
• Relation of exploratory behaviour to plasma corticosterone and Wfs1 gene expression in Wistar rats

  2010cites this paper
• Wolfram syndrome: a clinicopathologic correlation

  2009cites this paper
• Adiposity-Related Heterogeneity in Patterns of Type 2 Diabetes Susceptibility Observed in Genome-Wide Association Data

  2009cites this paper
• Current Developments in Wolfram Syndrome

  2009cites this paper
• alpha(5)beta(1) Integrin Ligand PHSRN Induces Invasion and alpha(5) mRNA in Endothelial Cells to Stimulate Angiogenesis.

  2009cites this paper
• Expression of the diabetes risk gene wolframin (WFS1) in the human retina.

  2009cites this paper
• Na,K-ATPase and epithelial tight junctions.

  2009cites this paper
• α5β1 Integrin Ligand PHSRN Induces Invasion and α5 mRNA in Endothelial Cells to Stimulate Angiogenesis

  2009cites this paper