Recent advances in pancreatic β-cell dysfunction in type 2 diabetes mellitus: Intracellular stress and dedifferentiation. [PDF]
J Diabetes InvestigJournal of Diabetes Investigation, Volume 17, Issue 8, Page 1254-1256, August 2026.
Kido N, Asahara SI.
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Mutation analysis of wolfram syndrome patients and functional study of the Wolframin protein [PDF]
, 2013 Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterised by juvenile-onset nonautoimmune diabetes mellitus and optic atrophy.
Prince, Samantha
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Could R-Ketamine and Wolfram Syndrome Inform Understanding of Depression and Suicidality? A Sigma-1 Receptor-Based Perspective. [PDF]
Hum PsychopharmacolABSTRACT Loss of function mutations in the WFS1 gene cause Wolfram syndrome, which is characterized by juvenile‐onset diabetes mellitus, diabetes insipidus, neurodegeneration, hearing loss and optic nerve atrophy. Psychiatric symptoms, including major depression and suicidal behavior, are common in this disorder.
Kalkman HO, Smigielski L.
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Molecular Therapy: Methods & Clinical Development, 2022 Wolfram syndrome (WS) is a rare neurodegenerative disease resulting in deafness, optic atrophy, diabetes, and neurological disorders. Currently, no treatment is available for patients. The mutated gene, WFS1, encodes an endoplasmic reticulum (ER) protein,
Lucie Crouzier +9 more
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Topology of <i>WFS1</i> Variants Linked With Islet Function and Higher Risk of Urological Symptoms in <i>WFS1</i>-Associated Disease. [PDF]
Pediatr DiabetesWolfram syndrome type 1 gene (WFS1), which encodes a transmembrane (TM) structural protein (wolframin), is essential for several biological processes. Mutations of WFS1, autosomal dominant or recessive inherited, are related to a broad clinical spectrum. Molecular genetic tests were performed, and clinical phenotypes of three WFS1‐associated cases were
Zhang JJ +12 more
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Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023 Objective·To identify the causative gene and mutations and describe the clinical traits in a Chinese diabetes pedigree suspected of Wolfram syndrome.Methods·A total of 12 subjects from one family were included.
MENG Xiangyu +9 more
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Wolframin‐1–expressing neurons in the entorhinal cortex propagate tau to neocortical brain regions under the amyloid pathology influence [PDF]
Alzheimers DementAbstract Background We have recently reported that wolframin‐1‐expressing (Wfs1+) pyramidal neurons in the entorhinal cortex layer II (ECII) that projects to the CA1 propagate phosphorylated tau (pTau) via the temporoammonic pathway, mimicking early stages of tau pathology in AD (ECII‐CA1 tau mice).
Ikezu S +8 more
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Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease-A Case Report. [PDF]
Clin Case RepMRI brain revealing features consistent with central diabetes insipidus (Figure A), pontine atrophy (Figure B), and bilateral optic nerve atrophy (Figure C) in a young, non‐autoimmune diabetic patient: imaging clue to Wolfram syndrome. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes ...
Ingawale S +4 more
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Multiple Retinal Anomalies in Wfs1-Deficient Mice
Diagnostics, 2020 Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness.
Arleta Waszczykowska +6 more
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eLife, 2023 Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes, and neurological deficits are the most prominent.
Greta Rossi +13 more
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