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Page 1
WFS1 Spectrum Disorder.
Barrett T, Tranebjærg L, Gupta R, McCarthy L, Rendtorff ND, Williams D, Wright B, Dias R. Barrett T, et al. 2009 Feb 24 [updated 2022 Dec 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Feb 24 [updated 2022 Dec 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301750 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. ...Both classic and nonclassic WFS1-SD. Once the WFS1 pathogenic variant(s) have been identified in …
CLINICAL CHARACTERISTICS: WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic W …
Genomics of Wolfram Syndrome 1 (WFS1).
Kõks S. Kõks S. Biomolecules. 2023 Sep 4;13(9):1346. doi: 10.3390/biom13091346. Biomolecules. 2023. PMID: 37759745 Free PMC article. Review.
The more prevalent of the two kinds of WFS is WFS1, which is a monogenic disease and caused by the loss of the WFS1 gene, whereas WFS2, which is more uncommon, is caused by mutations in the CISD2 gene. ...Understanding the genetics and the molecular mechanisms of …
The more prevalent of the two kinds of WFS is WFS1, which is a monogenic disease and caused by the loss of the WFS1 gene, wher …
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM. de Muijnck C, et al. Surv Ophthalmol. 2023 Jul-Aug;68(4):641-654. doi: 10.1016/j.survophthal.2023.01.012. Epub 2023 Feb 9. Surv Ophthalmol. 2023. PMID: 36764396 Free article. Review.
This review shows that, within the spectrum of WFS1-associated disorders or "wolframinopathies," autosomal dominantly inherited WFLS has a relatively mild phenotype compared to autosomal recessive WS. The clinical manifestations and their age at onset are associated with t …
This review shows that, within the spectrum of WFS1-associated disorders or "wolframinopathies," autosomal dominantly inherited WFLS …
Astrocyte-mediated regulation of BLA(WFS1) neurons alleviates risk-assessment deficits in DISC1-N mice.
Zhou X, Xiao Q, Liu Y, Chen S, Xu X, Zhang Z, Hong Y, Shao J, Chen Y, Chen Y, Wang L, Yang F, Tu J. Zhou X, et al. Neuron. 2024 Jul 3;112(13):2197-2217.e7. doi: 10.1016/j.neuron.2024.03.028. Epub 2024 Apr 19. Neuron. 2024. PMID: 38642554
Our study utilized single-nucleus RNA sequencing and path-clamp coupling with real-time RT-PCR to uncover a previously undescribed group of glutamatergic neurons in the basolateral amygdala (BLA) marked by Wolfram syndrome 1 (WFS1) expression, whose activity is modulated b …
Our study utilized single-nucleus RNA sequencing and path-clamp coupling with real-time RT-PCR to uncover a previously undescribed group of …
GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder.
Panfili E, Frontino G, Pallotta MT. Panfili E, et al. Front Clin Diabetes Healthc. 2023 Jun 2;4:1171091. doi: 10.3389/fcdhc.2023.1171091. eCollection 2023. Front Clin Diabetes Healthc. 2023. PMID: 37333802 Free PMC article. Review.
WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe. ...GLP-1 receptor agonists …
WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset di …
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY. Lim HD, et al. BMC Med Genomics. 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. BMC Med Genomics. 2023. PMID: 37041640 Free PMC article.
METHODS: We performed molecular genetic test and evaluated clinical phenotypes of three WFS1-associated DFNA6/14/38 families. A putative WFS1-NCS1 interaction model was generated, and the impacts of WFS1 variants on stability were predicted by comparing intra …
METHODS: We performed molecular genetic test and evaluated clinical phenotypes of three WFS1-associated DFNA6/14/38 families. A putat …
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
Majander A, Jurkute N, Burté F, Brock K, João C, Huang H, Neveu MM, Chan CM, Duncan HJ, Kelly S, Burkitt-Wright E, Khoyratty F, Lai YT, Subash M, Chinnery PF, Bitner-Glindzicz M, Arno G, Webster AR, Moore AT, Michaelides M, Stockman A, Robson AG, Yu-Wai-Man P. Majander A, et al. Am J Ophthalmol. 2022 Sep;241:9-27. doi: 10.1016/j.ajo.2022.04.003. Epub 2022 Apr 22. Am J Ophthalmol. 2022. PMID: 35469785 Free article.
OBJECTIVE: To evaluate the pattern of vision loss and genotype-phenotype correlations in WFS1-associated optic neuropathy (WON). DESIGN: Multicenter cohort study. METHODS: The study involved 37 patients with WON carrying pathogenic or candidate pathogenic WFS1 varia …
OBJECTIVE: To evaluate the pattern of vision loss and genotype-phenotype correlations in WFS1-associated optic neuropathy (WON). DESI …
WFS1 functions in ER export of vesicular cargo proteins in pancreatic beta-cells.
Wang L, Liu H, Zhang X, Song E, Wang Y, Xu T, Li Z. Wang L, et al. Nat Commun. 2021 Nov 30;12(1):6996. doi: 10.1038/s41467-021-27344-y. Nat Commun. 2021. PMID: 34848728 Free PMC article.
Herein, we show that ER to Golgi transfer of vesicular cargo proteins requires WFS1, an ER-associated membrane protein whose loss of function leads to Wolfram syndrome. ...WFS1 deficiency leads to abnormal accumulation of proinsulin in the ER, impeding the proinsuli …
Herein, we show that ER to Golgi transfer of vesicular cargo proteins requires WFS1, an ER-associated membrane protein whose loss of …
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
Hu K, Zatyka M, Astuti D, Beer N, Dias RP, Kulkarni A, Ainsworth J, Wright B, Majander A, Yu-Wai-Man P, Williams D, Barrett T. Hu K, et al. J Med Genet. 2022 Jan;59(1):65-74. doi: 10.1136/jmedgenet-2020-107257. Epub 2021 May 18. J Med Genet. 2022. PMID: 34006618 Free PMC article.
BACKGROUND: Wolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most patients have variants in the WFS1 gene. We undertook functional studies of WFS1 variants and correlated these with WFS1 …
BACKGROUND: Wolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most …
Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer's disease.
Li L, Venkataraman L, Chen S, Fu H. Li L, et al. Neurosci Biobehav Rev. 2020 Nov;118:775-783. doi: 10.1016/j.neubiorev.2020.09.011. Epub 2020 Sep 17. Neurosci Biobehav Rev. 2020. PMID: 32949681 Free PMC article. Review.
In this review, we focus on the function of WFS1 and WFS2 in the central nervous system as well as their implications in WS and AD. We also propose three future directions for elucidating the role of WFS1 and WFS2 in WS and AD....
In this review, we focus on the function of WFS1 and WFS2 in the central nervous system as well as their implications in WS and AD. W …
662 results