Associated Papers
Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer.
Cagalinec M et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
Defects of WFS1-mediated peptide hormones secretion contribute to the manifestations of Wolfram syndrome.
Li S et al.
Life Sciences, 2024
Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.
Jurca AD et al.
Medicina (kaunas, Lithuania), 2024
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD et al.
Bmc Medical Genomics, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells.
Wang L et al.
Nature Communications, 2021
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J et al.
Biomed Research International, 2021
Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome.
Grzela DP et al.
Stem Cell Research, 2020
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
La Morgia C et al.
Scientific Reports, 2020
A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.
Kytövuori L et al.
Hearing Research, 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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.
Shang L et al.
Diabetes, 2014
Calcium efflux from the endoplasmic reticulum leads to β-cell death.
Hara T et al.
Endocrinology, 2014
Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion.
Fonseca SG et al.
Nature Cell Biology, 2012
Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.
Fonseca SG et al.
The Journal of Clinical Investigation, 2010
Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin.
Hofmann S et al.
Febs Letters, 2006
WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells.
Fonseca SG et al.
The Journal of Biological Chemistry, 2005
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.
Komatsu K et al.
Journal of Human Genetics, 2002
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Khanim F et al.
Human Mutation, 2001
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
Inoue H et al.
Nature Genetics, 1998