Results 41 to 50 of about 2,517,817 (182)
Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells
Frontiers in Endocrinology, 2022 Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration.
Shuntaro Morikawa +5 more
doaj +1 more source
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 +1 more source
Valproate, a mood stabilizer, induces WFS1 expression and modulates its interaction with ER stress protein GRP94. [PDF]
PLoS ONE, 2009 Valproate is a standard treatment for bipolar disorder and a first-line mood stabilizer. The molecular mechanisms underlying its actions in bipolar disorder are unclear.
Chihiro Kakiuchi +5 more
doaj +1 more source
Stem Cell Research, 2023 Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells
Yen-Hui Chan +10 more
doaj +1 more source
Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes [PDF]
Diabetologia, 2008 Wolfram syndrome, originally described in 1938, is a rare, autosomal recessive disease that is characterised by young onset insulin-dependent diabetes, progressive sensorineural deafness, diabetes insipidus, autonomic nervous system dysfunction and, ultimately, brainstem atrophy and premature death [1]. The Wolfram gene (WFS1), which encodes wolframin,
J, Wasson, M A, Permutt
openaire +2 more sources
Transkriptoomilised ja metaboolsed muutused WFS1-puudulikkusega hiiremudelis [PDF]
, 2022 Väitekirja elektrooniline versioon ei sisalda publikatsiooneWolframi sündroom (WFS) on haruldane pärilik haigus, mida iseloomustavad lapseeas algav insuliinist sõltuv suhkurtõbi, nägemisnärvi kahjustus, magediabeet, kurtus ja mitmed neuroloogilised ...
Ivask, Marilin
core
Frontiers in Endocrinology, 2023 BackgroundWFS1-related disorders involve a wide range of clinical phenotypes, including diabetes mellitus and neurodegeneration. Inheritance patterns of pathogenic variants of this gene can be autosomal recessive or dominant, and differences in ...
Yu Ding +11 more
doaj +1 more source
The Impact of Mutations in Wolframin on Psychiatric Disorders
Frontiers in Pediatrics, 2021 Wolfram Syndrome is a rare autosomal recessive disease characterized by early-onset diabetes mellitus, neurodegeneration, and psychological disorders. Mutations in the gene WFS1, coding for the protein wolframin, cause Wolfram Syndrome and are associated
Saira Munshani +4 more
doaj +1 more source
, 2010 BACKGROUND: Valproate is a standard treatment for bipolar disorder and a first-line mood stabilizer. The molecular mechanisms underlying its actions in bipolar disorder are unclear.
Ishigaki, Shinsuke +5 more
core +1 more source
Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
PLoS ONE, 2014 Wolfram syndrome is an early onset genetic disease (1/180,000) featuring diabetes mellitus and optic neuropathy, associated to mutations in the WFS1 gene.
Delphine Bonnet Wersinger +6 more
doaj +1 more source