A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
Ophthalmic Genet. 2022 Sep 12:1-9. doi: 10.1080/13816810.2022.2113546. Online ahead of print. ABSTRACT BACKGROUND: Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic […]
Oxidative and endoplasmic reticulum stress develop adverse metabolic effects due to the high-fat high-fructose diet consumption from birth to young adulthood
Life Sci. 2022 Nov 15;309:120924. doi: 10.1016/j.lfs.2022.120924. Epub 2022 Sep 5. ABSTRACT AIMS: The early postnatal dietary intake has been considered a crucial factor affecting the offspring later life metabolic status. Consistently, this study investigated the oxidative and endoplasmic reticulum (ER) stress interventions in the induction of adverse metabolic effects due to the high-fat high-fructose […]
New International Guidelines and Consensus on the Use of Lung Ultrasound
J Ultrasound Med. 2023 Feb;42(2):309-344. doi: 10.1002/jum.16088. Epub 2022 Aug 22. ABSTRACT Following the innovations and new discoveries of the last 10 years in the field of lung ultrasound (LUS), a multidisciplinary panel of international LUS experts from six countries and from different fields (clinical and technical) reviewed and updated the original international consensus for […]
New unexpected role for Wolfram Syndrome protein WFS1: a novel therapeutic target for Alzheimer’s disease?
Neural Regen Res. 2023 Jul;18(7):1501-1502. doi: 10.4103/1673-5374.361540. NO ABSTRACT PMID:36571353 | DOI:10.4103/1673-5374.361540
Wolfram syndrome 1b mutation suppresses Mauthner-cell axon regeneration via ER stress signal pathway
Acta Neuropathol Commun. 2022 Dec 17;10(1):184. doi: 10.1186/s40478-022-01484-8. ABSTRACT Wolfram Syndrome (WS) is a fatal human inherited disease with symptoms of diabetes, vision decreasing, and neurodegeneration caused by mutations in the endoplasmic reticulum (ER)-resident protein WFS1. WFS1 has been reported to play an important role in glucose metabolism. However, the role of WFS1 in axonal […]
Rejuvenation: Turning Back Time by Enhancing CISD2
Int J Mol Sci. 2022 Nov 13;23(22):14014. doi: 10.3390/ijms232214014. ABSTRACT The aging human population with age-associated diseases has become a problem worldwide. By 2050, the global population of those who are aged 65 years and older will have tripled. In this context, delaying age-associated diseases and increasing the healthy lifespan of the aged population has […]
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
Front Genet. 2022 Oct 18;13:998898. doi: 10.3389/fgene.2022.998898. eCollection 2022. ABSTRACT Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatment required, […]
Predictions of the Poses and Affinity of a Ligand over the Entire Surface of a NEET Protein: The Case of Human MitoNEET
J Chem Inf Model. 2023 Jan 23;63(2):643-654. doi: 10.1021/acs.jcim.2c01280. Epub 2023 Jan 9. ABSTRACT Human NEET proteins contain two [2Fe-2S] iron-sulfur clusters, bound to three Cys residues and one His residue. They exist in two redox states. Recently, these proteins have revealed themselves as attractive drug targets for mitochondrial dysfunction-related diseases, such as type 2 […]
The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome
Int J Mol Sci. 2022 Dec 23;24(1):230. doi: 10.3390/ijms24010230. ABSTRACT The endoplasmic reticulum (ER) is a cytosolic organelle that plays an essential role in the folding and processing of new secretory proteins, including insulin. The pathogenesis of diabetes, a group of metabolic disorders caused by dysfunctional insulin secretion (Type 1 diabetes, T1DM) or insulin sensitivity […]
A 75-Year-Old Woman with a 5-Year History of Controlled Type 2 Diabetes Mellitus Presenting with Polydipsia and Polyuria and a Diagnosis of Central Diabetes Insipidus
Am J Case Rep. 2022 Dec 31;23:e938482. doi: 10.12659/AJCR.938482. ABSTRACT BACKGROUND Central diabetes insipidus (CDI) is a rare disorder characterized by large volumes of dilute urine because of a lack of antidiuretic hormone. Co-existing CDI and diabetes mellitus without inherited disorders such as Wolfram syndrome are rare. It is both important and challenging to diagnose […]