Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome
Genet Test Mol Biomarkers. 2024 May 9. doi: 10.1089/gtmb.2023.0550. Online ahead of print. ABSTRACT Background: Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two Moroccan families […]
The Wolfram-like variant WFS1(E864K) destabilizes MAM and compromises autophagy and mitophagy in human and mice
Autophagy. 2024 Apr 23:1-12. doi: 10.1080/15548627.2024.2341588. Online ahead of print. ABSTRACT Dominant variants in WFS1 (wolframin ER transmembrane glycoprotein), the gene coding for a mitochondria-associated endoplasmic reticulum (ER) membrane (MAM) resident protein, have been associated with Wolfram-like syndrome (WLS). In vitro and in vivo, WFS1 loss results in reduced ER to mitochondria calcium (Ca2+) transfer, […]
Astrocyte-mediated regulation of BLAWFS1 neurons alleviates risk-assessment deficits in DISC1-N mice
Neuron. 2024 Apr 16:S0896-6273(24)00235-6. doi: 10.1016/j.neuron.2024.03.028. Online ahead of print. ABSTRACT Assessing and responding to threats is vital in everyday life. Unfortunately, many mental illnesses involve impaired risk assessment, affecting patients, families, and society. The brain processes behind these behaviors are not well understood. We developed a transgenic mouse model (disrupted-in-schizophrenia 1 [DISC1]-N) with a […]
Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
BMB Rep. 2024 Apr 17:6179. Online ahead of print. ABSTRACT In the context of aging, the susceptibility to infectious diseases increases, leading to heightened morbidity and mortality. This phenomenon, termed immunosenescence, is characterized by dysregulation in the aging immune system, including abnormal alterations in lymphocyte composition, elevated basal inflammation, and the accumulation of senescent T […]
Editorial: Stars and rising stars in pediatric endocrinology: 2022
Front Endocrinol (Lausanne). 2024 Mar 18;15:1384549. doi: 10.3389/fendo.2024.1384549. eCollection 2024. NO ABSTRACT PMID:38562411 | PMC:PMC10982425 | DOI:10.3389/fendo.2024.1384549
Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1
J Clin Med. 2024 Mar 21;13(6):1803. doi: 10.3390/jcm13061803. ABSTRACT Purpose: Myocarditis is frequently a sporadic disease, but may also occur in the context of genetic disorders which may increase susceptibility to cardiac inflammation. Cardiac involvement in Wolfram syndrome type 1 (WS1) has been scarcely characterized. To our knowledge, no cases of virus-negative myocarditis have been […]
A Wolfram-like syndrome family: Case report
Eur J Ophthalmol. 2024 Mar 12:11206721241237552. doi: 10.1177/11206721241237552. Online ahead of print. ABSTRACT BACKGROUND: Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome. CASE PRESENTATION: We reported a case of a 10-year-old boy and […]
Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities
J Pediatr Endocrinol Metab. 2024 Mar 12. doi: 10.1515/jpem-2023-0531. Online ahead of print. ABSTRACT OBJECTIVES: Wolfram syndrome is characterised by insulin-dependent diabetes (IDDM), diabetes insipidus (DI), optic atrophy, sensorineural deafness and neurocognitive disorders. The DIDMOAD acronym has been recently modified to DIDMOAUD suggesting the rising awareness of the prevalence of urinary tract dysfunction (UD). End […]
An adolescent with Wolfram syndrome and central sleep apnea
J Clin Sleep Med. 2024 Mar 7. doi: 10.5664/jcsm.11110. Online ahead of print. ABSTRACT Wolfram syndrome (WS) is a rare autosomal recessive disorder affecting approximately 1:500,000 individuals. The disorder is most commonly caused by mutations in the WFS1 gene, which encodes an endoplasmic reticulum (ER) protein, wolframin, which is thought to protect against ER stress-related […]
Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments
Mamm Genome. 2024 Feb 13. doi: 10.1007/s00335-023-10028-x. Online ahead of print. ABSTRACT Wolfram syndrome (OMIM 222300) is a rare autosomal recessive disease with a devastating array of symptoms, including diabetes mellitus, optic nerve atrophy, diabetes insipidus, hearing loss, and neurological dysfunction. The discovery of the causative gene, WFS1, has propelled research on this disease. However, […]