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 Kõks
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A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report [PDF]
BMC Pediatrics, 2018 Background Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract
Min Li +5 more
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A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1 [PDF]
BMC Endocrine Disorders, 2021 Background Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Yingying Gong +4 more
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Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke [PDF]
Frontiers in Genetics, 2023 Wolfram syndrome 1 (WFS1) gene mutations can be dominantly or recessively inherited, and the onset of the clinical picture is highly heterogeneity in both appearance and degree of severity.
Yuan Chen +11 more
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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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Selective proteasome degradation of C‐terminally‐truncated human WFS1 in pancreatic beta cells
FEBS Open Bio, 2023 Wolfram syndrome is a monogenic disease mainly caused by mutations in the WFS1 gene. Mutations in the WFS1 gene give rise to diabetes. Here, we characterized mutant WFS1 proteins by studying the stability of full‐length wild‐type (WT) WFS1, a missense ...
Hiraku Tokuma +5 more
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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness [PDF]
Scientific Reports, 2022 To analyse the pathogenic genes and mutations of a family with hereditary deafness. We recruited a three-generation family with NSHL. A detailed medical history inquiry and related examinations were performed. Next-generation sequencing (NGS) was used to
Jing Zhao +5 more
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Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila. [PDF]
PLoS Genetics, 2018 Wolfram syndrome (WS), caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1), is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations.
Yasufumi Sakakibara +4 more
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A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene [PDF]
American Journal of Ophthalmology Case Reports, 2022 Purpose: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40.
Jinhee Lee +7 more
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Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice [PDF]
Frontiers in Molecular Neuroscience, 2015 BackgroundMutations in WFS1 gene cause Wolfram syndrome, which is a rare autosomal recessive disorder, characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Karin eTein +4 more
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