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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ceca.2022.102572 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cochlear implant in Wolfram syndrome: A case report.
Cochlear Implants Int
December 2024
Department of ENT and Head & Neck Surgery, Seth GS Medical College & K.E.M. Hospital, Mumbai, India.
Introduction: Wolfram syndrome, a rare autosomal recessive disorder, is characterised by diabetes insipidus, juvenile diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Case Report: We present a case of a 21-year-old male diagnosed with Wolfram syndrome who underwent cochlear implantation due to progressive hearing loss. The patient first complained of bilateral hearing loss at the age of 8 years.
Foecal incontinence disorders in Wolfram syndrome: a new manifestation.
J Med Genet
December 2024
Functional Unity of Ophthalmology, ERN Eye, Ophthalmological Rare Diseases Center, Georges Pompidou European Hospital, Paris, France
Dual role of neuroplastin in pancreatic β cells: Regulating insulin secretion and promoting islet inflammation.
Proc Natl Acad Sci U S A
August 2024
Department of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, St. Louis, MO 63110.
Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident secretory protein that reduces inflammation and promotes proliferation in pancreatic β cells. Numerous studies have highlighted the potential of MANF as a therapeutic agent for diabetes mellitus (DM), making it essential to understand the mechanisms underlying MANF's functions. In our previous search for a molecule that mediates MANF signaling, we identified Neuroplastin (NPTN) as a binding partner of MANF that localizes on the cell surface.
View Article and Find Full Text PDFEarly trigeminal and sensory impairment and lysosomal dysfunction in accurate models of Wolfram syndrome.
Exp Neurol
December 2024
Department of Pharmacology, Institute of Biomedicine and Translational Medicine, University of Tartu, Ravila 19, 50411 Tartu, Estonia. Electronic address:
Wolfram syndrome (WS) is a rare condition caused by homozygous or compound heterozygous mutations in the WFS1 gene primarily. It is diagnosed on the basis of early-onset diabetes mellitus and optic nerve atrophy. Patients complain of trigeminal-like migraines and show deficits in vibration sensation, but the underlying cause is unknown.
View Article and Find Full Text PDFNovel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings.
Ann Indian Acad Neurol
December 2024
Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India.
Wolfram syndrome (WS), a rare genetic neurodegenerative condition, is primarily characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss, along with diverse systemic manifestations. Late-stage cases exhibit widespread brain atrophy. While bleeding tendencies are not commonly observed in Type 2 WS (WS2), there is a distinctive bleeding tendency that is exclusive to WS2, with no documented occurrences in Type 1 WS (WS1).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!