Activation of GLP-1 receptor signalling alleviates cellular stresses and improves beta cell function in a mouse model of Wolfram syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Diabetologia"
DOI: 10.1007/s00125-018-4679-y
Abstract: Aims/hypothesisLoss of functional beta cells results in a gradual progression of insulin insufficiency in Wolfram syndrome caused by recessive WFS1 mutations. However, beta cell dysfunction in Wolfram syndrome has yet to be fully characterised, and… read more here.
Keywords: insulin; beta; wolfram syndrome; beta cell ... See more keywords
Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure
Sign Up to like & getrecommendations! Published in 2020 at "Endocrine"
DOI: 10.1007/s12020-020-02320-6
Abstract: Background Wolfram syndrome (WFS) is a rare, monogenic neurodegenerative syndrome characterised by insulin requiring non-autoimmune diabetes mellitus (DM) and optic atrophy which are usually the earliest and commonest manifestations. However, there are other features which… read more here.
Keywords: primary gonadal; gonadal failure; wolfram syndrome; care centre ... See more keywords
Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Endocrine"
DOI: 10.1007/s12020-021-02622-3
Abstract: Wolfram Syndrome is a very rare genetic disease causing diabetes mellitus, blindness, deafness, diabetes insipidus, and progressive brainstem degeneration. Neurologic symptoms of affected patients include ataxia, sleep apnea, loss of bladder control, dysphagia, loss of… read more here.
Keywords: collaboration rare; rare diabetes; wolfram syndrome; understanding new ... See more keywords
Boosting ER-mitochondria calcium transfer to treat Wolfram syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Cell calcium"
DOI: 10.1016/j.ceca.2022.102572
Abstract: Wolfram syndrome is a rare genetic disorder characterized by endocrine dysfunction and progressive neurodegeneration. By targeting intracellular calcium dysregulations, a sigma-1 receptor agonist rescued neurological deficits in preclinical models of Wolfram syndrome. read more here.
Keywords: boosting mitochondria; wolfram syndrome; calcium; calcium transfer ... See more keywords
Wolfram Syndrome: a Monogenic Model to Study Diabetes Mellitus and Neurodegeneration.
Sign Up to like & getrecommendations! Published in 2020 at "Current opinion in physiology"
DOI: 10.1016/j.cophys.2020.07.009
Abstract: Wolfram syndrome (WS) is a rare, progressive disorder characterized by childhood-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and neurodegeneration. Currently, there is no effective treatment for WS, and patients typically die between… read more here.
Keywords: mellitus neurodegeneration; monogenic model; neurodegeneration; wolfram syndrome ... See more keywords
Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-28314-z
Abstract: Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in the WFS1 (Wolframin1) gene. The syndrome first manifests as diabetes mellitus, followed by optic nerve atrophy, deafness, and neurodegeneration. The underlying mechanism… read more here.
Keywords: glucose intolerance; treatment; wolfram syndrome; development glucose ... See more keywords
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-61735-3
Abstract: Wolfram syndrome (WS) is a recessive multisystem disorder defined by the association of diabetes mellitus and optic atrophy, reminiscent of mitochondrial diseases. The role played by mitochondria remains elusive, with contradictory results on the occurrence… read more here.
Keywords: pathology; wolfram syndrome; primary mitochondrial; mitochondrial dysfunction ... See more keywords
Liraglutide, 7,8-DHF and their co-treatment prevents loss of vision and cognitive decline in a Wolfram syndrome rat model
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-81768-6
Abstract: Wolfram syndrome (WS) is a monogenic progressive neurodegenerative disease and is characterized by various neurological symptoms, such as optic nerve atrophy, loss of vision, cognitive decline, memory impairment, and learning difficulties. GLP1 receptor agonist liraglutide… read more here.
Keywords: treatment; liraglutide dhf; wolfram syndrome; dhf treatment ... See more keywords
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2022.2068038
Abstract: BACKGROUND In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an autosomal dominant disease caused by heterozygous variants in the WFS1 gene. Here, we present deep phenotyping of a mother and… read more here.
Keywords: wolfram; wfs1 variant; wolfram syndrome; novel missense ... See more keywords
Enhancement of taste by retronasal odors in patients with Wolfram Syndrome and decreased olfactory function.
Sign Up to like & getrecommendations! Published in 2023 at "Chemical senses"
DOI: 10.1093/chemse/bjad004
Abstract: Wolfram syndrome is a rare disease characterized by diabetes, neurodegeneration, loss of vision, and audition. We recently found, in a young sample of participants (mean age 15 yrs), that Wolfram syndrome was associated with impairment… read more here.
Keywords: function; taste; smell; taste retronasal ... See more keywords
Advances in gene therapy for Wolfram syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Acta Ophthalmologica"
DOI: 10.1111/j.1755-3768.2017.03174
Abstract: Summary The Wolfram Syndrome (WS) is an early onset genetic disease (1/200 000) featuring diabetes mellitus and progressive optic neuropathy ensuing mutations in the WFS1 gene. To date, there is no treatment to stop the… read more here.
Keywords: therapy wolfram; gene therapy; wolfram syndrome; gene ... See more keywords