Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations

Publication: nature.com | Publication Date: July 2, 2019

Authors: Luciana Rigoli, Concetta Aloi, Alessandro Salina, Chiara Di Bella, Giuseppina Salzano, Rosario Caruso, Emanuela Mazzon, Mohamad Maghnie, Giuseppa Patti, Giuseppe D’Annunzio & Fortunato Lombardo

Abstract

Objectives

We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype–phenotype correlations. Read more

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WFS1 Mutation Frequency 60-fold Higher in Ashkenazi Jewish Individuals – Results in Wolfram Spectrum and Increased Risk for T2DM

Publication: pubmed.ncbi.nlm.nih.gov | Publication Date: July 16, 2018

Authors: Vikas Bansal, Bernhard O Boehm, Ariel Darvasi

Abstract

Aims/hypothesis: Wolfram syndrome is a rare, autosomal recessive syndrome characterised by juvenile-onset diabetes and optic atrophy and is caused by bi-allelic mutations in the WFS1 gene. In a recent sequencing study, an individual with juvenile-onset diabetes was observed to be homozygous for a rare missense variant (c.1672C>T, p.R558C) in the WFS1 gene. Read more

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Valproate to Increase WFS-1 Expression

Publication: journals.plos.org | Publication Date: January 6, 2009

Authors: Chihiro Kakiuchi,Shinsuke Ishigaki,Christine M. Oslowski,Sonya G. Fonseca,Tadafumi Kato & Fumihiko Urano

Abstract

Background

Valproate is a standard treatment for bipolar disorder and a first-line mood stabilizer. The molecular mechanisms underlying its actions in bipolar disorder are unclear. It has been suggested that the action of valproate is linked to changes in gene expression and induction of endoplasmic reticulum (ER) stress-response proteins. Read more

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Urinary Disorders Revealing a Wolfram Syndrome: A Case Report

Publication: endocrine-abstracts.org | Publication Date: September 09, 2020

Authors: Mouna Sghir, Soumaya Elarem, Wafa Said, Aymen Haj Salah, Baha Zantour & Wassia Kessomtini

Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus (non-autoimmune), Optic Atrophy, and Deafness. Read more

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Urano publishes research on the connection between loss of WFS1 function and ER stress-mediated inflammation

Publication: endocrinology.wustl.edu | Publication Date: June 10, 2022

Authors: Morikawa, S., Blacher, L., Onwumere, C., & Urano F.

On March 25, Fumihiko Urano, MD, PhD and colleagues had their research titled “Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells,” published in “Frontiers in Endocrinology.” Read more

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The Race to Treat Rare, Fatal Syndrome May Help Others With Common Disorders Like Diabetes

Publication: science.org | Publication Date: February 11, 2021

Authors: Mitch Leslie

A Revealing Flaw: A rare disease that cripples a key cellular organelle holds clues to treating more common conditions.

Abstract

Maureen Marshall-Doss says the first sign that her vision was deteriorating came when she misidentified the color of a dress. At a backyard get-together about 20 years ago, the Indianapolis resident pointed out an attractive yellow dress another woman was wearing. “You see that as yellow? She’s wearing a pink dress,” Marshall-Doss recalls her husband responding. Read more

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The impact of the unfolded protein response on human disease

Publication: rupress.org | Publication Date: June 25, 2012

Authors: Shiyu Wang, Randal J. Kaufman

A central function of the endoplasmic reticulum (ER) is to coordinate protein biosynthetic and secretory activities in the cell. Alterations in ER homeostasis cause accumulation of misfolded/unfolded proteins in the ER. Read more

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Role of Endoplasmic Reticulum Stress in Metabolic Disease and Other Disorders

Publication: ncbi.nlm.nih.gov | Publication Date: July 1, 2012

Authors: Lale Ozcan and Ira Tabas

Abstract

Perturbations in the normal functions of the endoplasmic reticulum (ER) trigger a signaling network that coordinates adaptive and apoptotic responses. There is accumulating evidence implicating prolonged ER stress in the development and progression of many diseases, including neurodegeneration, atherosclerosis, type 2 diabetes, liver disease, and cancer. Read more

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Psychiatric Diagnoses and Medications in Wolfram Syndrome

Publication: sciendo.com | Publication Date: December 31, 2022

Authors: Angela M. Reiersen, Jacob S. Noel, Tasha Doty, Richa A. Sinkre, Anagha Narayanan and Tamara Hershey

Background

Wolfram Syndrome is a rare genetic disorder usually resulting from pathogenic variation in the WFS1 gene, which leads to an exaggerated endoplasmic reticulum (ER) stress response. The disorder is typically characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy, hearing loss, and neurodegenerative features. Existing literature suggests it may also have psychiatric manifestations.
Read more

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Preventive Treatment with Liraglutide

Publication: nature.com | Publication Date: July 05, 2018

Authors: Maarja Toots, Kadri Seppa, Toomas Jagomäe, Tuuliki Koppel, Maia Pallase, Indrek Heinla, Anton Terasmaa, Mario Plaas & Eero Vasar

Abstract

Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in the WFS1 (Wolframin1) gene. The syndrome first manifests as diabetes mellitus, followed by optic nerve atrophy, deafness, and neurodegeneration. Read more

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