Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

(2017) Cécile Rouzier et al.   HUMAN MOLECULAR GENETICS

Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome

(2016) Michal Cagalinec et al.   PLOS BIOLOGY

Role of mitochondrial dysfunction and dysregulation of Ca2+ homeostasis in insulin insensitivity of mammalian cells

(2015) Chih-Hao Wang et al.   Annals of the New York Academy of Sciences

Retinal Thinning as a Marker of Disease Progression in Patients With Wolfram Syndrome

(2015) Agnieszka Zmyslowska et al.   DIABETES CARE

Selective cognitive and psychiatric manifestations in Wolfram Syndrome

(2015) Allison Bischoff et al.   Orphanet Journal of Rare Diseases

Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice

(2015) Karin Tein et al.   Frontiers in Molecular Neuroscience

Mutation update and uncommon phenotypes in a French cohort of 96 patients withWFS1-related disorders

(2014) A. Chaussenot et al.   CLINICAL GENETICS

Wolfram Syndrome iPS Cells: The First Human Cell Model of Endoplasmic Reticulum Disease

(2014) F. Urano   DIABETES

Delayed Recognition of Wolfram Syndrome Frequently Misdiagnosed as Type 1 Diabetes with Early Chronic Complications

(2014) A. Zmyslowska et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression

(2014) M. Zatyka et al.   HUMAN MOLECULAR GENETICS

Initiation and developmental dynamics of Wfs1 expression in the context of neural differentiation and ER stress in mouse forebrain

(2014) Triin Tekko et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome

(2014) James Hoekel et al.   JOURNAL OF AAPOS

Wfs1-deficient animals have brain-region-specific changes of Na+, K+-ATPase activity and mRNA expression of α1and β1subunits

(2014) S. Sütt et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features

(2014) Kimie Matsunaga et al.   PLoS One

A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome

(2014) Simin Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected

(2014) F. Lombardo et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene

(2013) Reka Kovacs-Nagy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Protein Homeostasis as a Therapeutic Target for Diseases of Protein Conformation

(2013) Barbara Calamini et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

 -Cell Dysfunction Due to Increased ER Stress in a Stem Cell Model of Wolfram Syndrome

(2013) L. Shang et al.   DIABETES

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

(2013) L. L. Bonnycastle et al.   DIABETES

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

(2013) Miguel López de Heredia et al.   GENETICS IN MEDICINE

Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a NovelWFS1Gene Deletion

(2013) Oscar Chacón-Camacho et al.   OPHTHALMIC GENETICS

Silencing of the WFS1 gene in HEK cells induces pathways related to neurodegeneration and mitochondrial damage

(2013) Sulev Kõks et al.   PHYSIOLOGICAL GENOMICS

Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype

(2012) Luciana Rigoli et al.   GENE

Visual Improvement With the Use of Idebenone in the Treatment of Wolfram Syndrome

(2012) Simon R. Bababeygy et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Integrating insulin secretion and ER stress in pancreatic β-cells

(2012) Katleen Lemaire et al.   NATURE CELL BIOLOGY

Wolfram Syndrome: New Mutations, Different Phenotype

(2012) Concetta Aloi et al.   PLoS One

Early Brain Vulnerability in Wolfram Syndrome

(2012) Tamara Hershey et al.   PLoS One

Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype

(2011) J. Rohayem et al.   DIABETES CARE

Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic  -cells

(2011) M. Hatanaka et al.   HUMAN MOLECULAR GENETICS

Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss

(2011) Yi Sun et al.   Journal of Genetics and Genomics

Current Developments in Wolfram Syndrome

(2011) M.A. Ganie et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Neurologic features and genotype-phenotype correlation in Wolfram syndrome

(2010) Annabelle Chaussenot et al.   ANNALS OF NEUROLOGY

A role for the CISD2 gene in lifespan control and human disease

(2010) Yi-Fan Chen et al.   Annals of the New York Academy of Sciences

Wolfram syndrome and WFS1 gene

(2010) L Rigoli et al.   CLINICAL GENETICS

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

(2010) Sonya G. Fonseca et al.   JOURNAL OF CLINICAL INVESTIGATION

Wolfram syndrome: a clinicopathologic correlation

(2009) Justin B. Hilson et al.   ACTA NEUROPATHOLOGICA

Identification and Characterization of Wolframin, the Product of the Wolfram Syndrome Gene (WFS1), as a Novel Calmodulin-Binding Protein

(2009) Saki Yurimoto et al.   BIOCHEMISTRY

Increased insulin demand promotes while pioglitazone prevents pancreatic beta cell apoptosis in Wfs1 knockout mice

(2009) M. Akiyama et al.   DIABETOLOGIA

Antagonism of Beclin 1-dependent autophagy by BCL-2 at the endoplasmic reticulum requires NAF-1

(2009) Natasha C Chang et al.   EMBO JOURNAL

Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice

(2009) Y.-F. Chen et al.   GENES & DEVELOPMENT

Wolfram syndrome 1 (Wfs1) mRNA expression in the normal mouse brain during postnatal development

(2009) June Kawano et al.   NEUROSCIENCE RESEARCH

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists

(2009) Sharath Kumar   PEDIATRIC DIABETES

Expression and localization ofWolfram syndrome 1gene in the developing rat pancreas

(2009) Rong Xu   WORLD JOURNAL OF GASTROENTEROLOGY

Wolfram Syndrome (Diabetes Insipidus, Diabetes, Optic Atrophy, and Deafness): Clinical and genetic study

(2008) G. d'Annunzio et al.   DIABETES CARE

Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in theWFS1gene

(2008) R. Valro et al.   DIABETIC MEDICINE

Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities

(2008) Inki Kim et al.   NATURE REVIEWS DRUG DISCOVERY

MicroRNA target site polymorphisms and human disease

(2008) Praveen Sethupathy et al.   TRENDS IN GENETICS