Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy
Orphanet J Rare Dis. 2026 Apr 18. doi: 10.1186/s13023-026-04348-9. Online ahead of print. NO ABSTRACT PMID:42001184 | DOI:10.1186/s13023-026-04348-9
WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome
Acta Neuropathol Commun. 2026 Apr 18. doi: 10.1186/s40478-026-02295-x. Online ahead of print. NO ABSTRACT PMID:41998758 | DOI:10.1186/s40478-026-02295-x
The Valdivia Project: genetic characterization of a unique Wolfram Syndrome cluster in coastal Ecuador
Orphanet J Rare Dis. 2026 Apr 17. doi: 10.1186/s13023-026-04344-z. Online ahead of print. NO ABSTRACT PMID:41998697 | DOI:10.1186/s13023-026-04344-z
Evaluating the Use of GLP-1 Receptor Agonists in Wolfram syndrome Patients
medRxiv [Preprint]. 2026 Apr 2:2026.03.31.26349885. doi: 10.64898/2026.03.31.26349885. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the WFS1 gene, characterized by early-onset diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine vasopressin deficiency, and progressive neurodegeneration. The condition selectively affects pancreatic β cells and neurons via chronic endoplasmic reticulum (ER) stress, […]
Type 2 Diabetes Mellitus or Maturity Onset Diabetes in the Young Due to Wolfram Syndrome Gene-1 Mutation-A Perplexing Case
AACE Endocrinol Diabetes. 2025 Nov 4;13(2):189-192. doi: 10.1016/j.aed.2025.10.023. eCollection 2026 Mar-Apr. ABSTRACT BACKGROUND/OBJECTIVE: Maturity Onset Diabetes in the Young (MODY) is the most common form of monogenic diabetes caused by various single gene mutations. We present a patient with presumed type 2 diabetes mellitus (T2DM), ultimately diagnosed with MODY due to heterozygous Wolfram Syndrome 1 […]
Medicinal Chemistry Review of the NEET Protein Family
ChemMedChem. 2026 Apr 14;21(7):e202500969. doi: 10.1002/cmdc.202500969. ABSTRACT Members of the NEET family of proteins are of interest as drug targets in several age-related diseases, including cancer, diabetes, obesity, Alzheimer’s and Parkinson’s disease, stroke, and traumatic brain injury. These proteins share a CDGSH motif and redox-active [2Fe-2S] clusters. MitoNEET (CDGSH iron-sulfur domain-containing protein 1) is an […]
Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome
Front Neurosci. 2026 Mar 18;20:1805916. doi: 10.3389/fnins.2026.1805916. eCollection 2026. ABSTRACT BACKGROUND: Wolfram syndrome is a rare genetic disorder caused by pathogenic variants in the WFS1 gene. Progressive neurodegeneration, a key feature of the disease, is an important target of current and future clinical trials. Serum neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) […]
Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms and WFS1 Gene Variant Types
medRxiv [Preprint]. 2026 Mar 26:2026.03.24.26349216. doi: 10.64898/2026.03.24.26349216. ABSTRACT Wolfram syndrome is a rare genetic disorder characterized by antibody-negative early-onset atypical diabetes mellitus, optic nerve atrophy, sensorineural hearing loss, diabetes insipidus (arginine vasopressin deficiency), and progressive neurodegeneration, with significant variability in disease severity. We assessed the accuracy of a genotype-based severity scoring system to predict the […]
Synaptic Alterations Are Preceding the Axonal Loss in Optic Atrophy of Wolfram Syndrome Mouse Model
bioRxiv [Preprint]. 2026 Mar 25:2026.03.22.713521. doi: 10.64898/2026.03.22.713521. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by antibody-negative early-onset diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine-vasopressin deficiency, and progressive neurodegeneration of the brainstem and cerebellum. It is caused primarily by pathogenic variants in the WFS1 gene, which encodes a transmembrane endoplasmic reticulum-resident protein […]
Expert perspectives on Myalgic encephalomyelitis/chronic fatigue syndrome – Insights from the 3(rd) International Conference of the Charite Fatigue Center
Autoimmun Rev. 2026 Mar 25:104043. doi: 10.1016/j.autrev.2026.104043. Online ahead of print. ABSTRACT Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex, multisystemic disorder mostly triggered by viral infections, with core symptoms including post-exertional malaise (PEM), fatigue, pain, and cognitive dysfunction. Its prevalence has increased significantly in the context of the coronavirus disease 2019 (COVID-19) pandemic. Despite […]