Associated Papers
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.
Rohayem J et al.
Andrology, 2026
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
37415600 (PubMed )
Supplement: DataSheet1.XLSX › Supplementary_Materials
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
Hu K et al.
Journal of Medical Genetics, 2022
The Impact of Mutations in Wolframin on Psychiatric Disorders.
Munshani S et al.
Frontiers in Pediatrics, 2021
Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.
Wragg R et al.
Journal of Pediatric Surgery, 2018
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
29196752 (PubMed )
Supplement: 41598_2017_16846_MOESM1_ESM.pdf
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E et al.
Diabetes, 2017
The E3 ligase Smurf1 regulates Wolfram syndrome protein stability at the endoplasmic reticulum.
Guo X et al.
The Journal of Biological Chemistry, 2011
Neurologic features and genotype-phenotype correlation in Wolfram syndrome.
Chaussenot A et al.
Annals of Neurology, 2011
Novel mutations of wolframin: a report with a look at the protein structure.
Alimadadi A et al.
Clinical Genetics, 2011
Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress.
Zatyka M et al.
Human Molecular Genetics, 2008
Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin.
Hofmann S et al.
Febs Letters, 2006
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
Giuliano F et al.
Human Mutation, 2005
Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes.
Silvestri F et al.
Aace Clinical Case Reports, 0
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