Rare Disease Day is February 29th

Rare Disease Day is February 29th. Please help the Snow Foundation raise some awareness and funding.  Our goal is to raise $5,000 this month.  Please share and start your fundraiser on Facebook today, donate online

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Wolframin and SERCA – Molecular Partners

Publication: ncbi.nlm.nih.gov | Publication Date: September 30, 2014

Authors: Zatyka, M., Da Silva Xavier, G., Bellomo, E. A., Leadbeater, W., Astuti, D., Smith, J., Michelangeli, F., Rutter, G. A., & Barrett, T. G.

Abstract

Wolfram syndrome is an autosomal recessive disorder characterized by neurodegeneration and diabetes mellitus. The gene responsible for the syndrome (WFS1) encodes an endoplasmic reticulum (ER)-resident transmembrane protein that is involved in the regulation of the unfolded protein response (UPR), intracellular ion homeostasis, cyclic adenosine monophosphate production and regulation of insulin biosynthesis and secretion. Read more

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Wolframin and Calcium Homeostasis

Publication: jbc.org | Publication Date: December 2003

Authors: Abdullah A. Osman, Mitsuyoshi Saito, Carol Makepeace, M. Alan Permutt, Paul Schlesinger, Mike Mueckler

Wolfram syndrome is an autosomal recessive neuro-degenerative disorder associated with juvenile onset non-autoimmune diabetes mellitus and progressive optic atrophy. The disease has been attributed to mutations in the WFS1 gene, which codes for a protein predicted to possess 9–10 transmembrane segments. Little is known concerning the function of the WFS1 protein (wolframin). Read more

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Wolfram Syndrome: Diagnosis, Management, and Treatment

Publication: ncbi.nlm.nih.gov | Publication Date: 2016

Authors: Fumihiko Urano

Abstract

Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. Read more

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A Curious Case of Repetitive Loss of Consciousness

Publication: cureus.com | Publication Date: October 3, 2023

Authors: Carvalho M M, Jesus R, Mendes A, et al.

Abstract

Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Read more

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Wolfram Syndrome Overview

Publication: rarediseases.org | Publication Date: September 23, 2020

Authors: Hershey, T., Marshall, B., & May, J.

Summary

Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. In addition, many people with Wolfram syndrome also develop diabetes insipidus and sensorineural hearing loss. Read more

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Wolfram Syndrome as a Mitochondriopathy

Publication: nature.com | Publication Date: March 6, 2018

Authors: Benjamin Delprat, Tangui Maurice & Cécile Delettre

Abstract

Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms may be identified in some but not all patients. Prognosis is poor, with death occurring around 35 years of age. Read more

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Wolfram Syndrome and its Degenerative Factors and Treatments

Publication: undergradsciencejournals.okstate.edu | Publication Date: 2021

Authors: Olivia Tolbert

Abstract

With advancements in treatments for Wolfram syndrome come new ways to possibly treat or further understand other degenerative diseases such as Alzheimer’s and Parkinson’s. There are multiple forms of treatments being devised, one path is to limit the frequency of cell death and halt further symptoms the other to prevent or replace the mutated cells. Read more

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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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