Genomics of Wolfram Syndrome 1 (WFS1)
Biomolecules, 2023 Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD.
Sulev Koks
exaly +7 more sources
Novel WFS1 variants are associated with different diabetes phenotypes
Frontiers in GeneticsBackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as ...
Lei Wu +19 more
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Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees [PDF]
Journal of DiabetesBackground Mutations in the WFS1 gene are implicated in Wolfram syndrome (WS), Wolfram‐like syndrome (WFLS), and maturity‐onset diabetes of the young (MODY).
ChangQing Liu +11 more
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Deletion of wfs1 Impairs Oligodendrocyte Precursor Cells Dorsal Distribution and Myelination Through the wfs1-hmgcs1 Axis in Zebrafish [PDF]
BiologyWolfram syndrome (WS) is a neurodegenerative disorder caused by mutations in the endoplasmic reticulum (ER) transmembrane protein WFS1. Mutations in WFS1 lead to ER stress and dysregulated calcium signaling, resulting in progressive neurological ...
Xiahui Tang +7 more
doaj +3 more sources
WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome [PDF]
Acta Neuropathologica CommunicationsWolfram syndrome is a rare childhood neurodegenerative disease characterized by diabetes followed by severe and rapid optic atrophy leading to blindness before the age of 20.
Jolanta Jagodzinska +7 more
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Targeting WFS1 overcomes KRASG12D dependency and adaptive resistance to KRAS inhibition in pancreatic cancer [PDF]
npj Precision OncologyKRASG12D-driven pancreatic ductal adenocarcinoma (PDAC) remains a therapeutic challenge characterized by limited treatment options. While MRTX1133, a potent and selective KRASG12D inhibitor, is currently under clinical evaluation, the emergence of ...
Yixi Chen +8 more
doaj +3 more sources
Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder [PDF]
Frontiers in OphthalmologyWFS1 spectrum disorder is a rare condition, characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). A 2-year-old female patient with a history of sensorineural hearing loss presented with rapid, sequential cataract ...
Aaishwariya A. Gulani +6 more
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BMC Medical Genomics, 2023 Background Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function.
Hui Dong Lim +6 more
doaj +2 more sources
Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY. [PDF]
DiabetesAn accurate genetic diagnosis of Maturity-Onset Diabetes of the Young (MODY) is critical for personalised treatment. To avoid misdiagnosis, only genes with strong evidence of causality must be tested.
Sriram A +6 more
europepmc +2 more sources
Frontiers in ImmunologyBackgroundDiabetes is associated with the incidence and prognosis of various malignancies, most notably endometrial cancer (EC). This study investigated the connection between diabetes and EC, with a specific focus on elucidating the biological ...
Wenzhe Li +8 more
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