{"title":"Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from <i>C. elegans ubr-1</i> model.","authors":"Yi Li, Shangbang Gao","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>The Johanson-Blizzard syndrome (JBS) is a complex autosomal recessive disorder that manifests through a spectrum of symptoms, with deficiencies in the ubiquitin-protein ligase E3 component N-recognin 1 (UBR-1) at its genetic core. Despite its clinical significance, the molecular intricacies of UBR-1's role in JBS remain largely elusive, presenting a formidable challenge in devising targeted treatments. The nematode <i>Caenorhabditis elegans</i>, with its genetic tractability and conservation of fundamental biological mechanisms, emerges as an invaluable model for unravelling the molecular underpinnings of JBS. This review integrates the latest discoveries from <i>C. elegans</i> studies, shedding light on UBR-1's multiple functions: its regulatory impact on cellular pathways and, particularly, its crucial involvement in glutamate metabolism. By assessing the contributions of these studies to our understanding of JBS, this review highlights the potential significance of glutamate metabolic dysfunction in JBS pathogenesis.</p>","PeriodicalId":15171,"journal":{"name":"Journal of Biosciences","volume":"50 ","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Biosciences","FirstCategoryId":"99","ListUrlMain":"","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
The Johanson-Blizzard syndrome (JBS) is a complex autosomal recessive disorder that manifests through a spectrum of symptoms, with deficiencies in the ubiquitin-protein ligase E3 component N-recognin 1 (UBR-1) at its genetic core. Despite its clinical significance, the molecular intricacies of UBR-1's role in JBS remain largely elusive, presenting a formidable challenge in devising targeted treatments. The nematode Caenorhabditis elegans, with its genetic tractability and conservation of fundamental biological mechanisms, emerges as an invaluable model for unravelling the molecular underpinnings of JBS. This review integrates the latest discoveries from C. elegans studies, shedding light on UBR-1's multiple functions: its regulatory impact on cellular pathways and, particularly, its crucial involvement in glutamate metabolism. By assessing the contributions of these studies to our understanding of JBS, this review highlights the potential significance of glutamate metabolic dysfunction in JBS pathogenesis.
期刊介绍:
The Journal of Biosciences is a quarterly journal published by the Indian Academy of Sciences, Bangalore. It covers all areas of Biology and is the premier journal in the country within its scope. It is indexed in Current Contents and other standard Biological and Medical databases. The Journal of Biosciences began in 1934 as the Proceedings of the Indian Academy of Sciences (Section B). This continued until 1978 when it was split into three parts : Proceedings-Animal Sciences, Proceedings-Plant Sciences and Proceedings-Experimental Biology. Proceedings-Experimental Biology was renamed Journal of Biosciences in 1979; and in 1991, Proceedings-Animal Sciences and Proceedings-Plant Sciences merged with it.