SynthesisOrphanet journal of rare diseases2025
Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review.
Synthesis in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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3 authors.
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Abstract
Glycosylation is a post-translational modification of proteins that involves the addition of glycan groups and is essential for their proper functionality. This highly complex process affects 70% of all human proteins. Mutations in genes involved in glycosylation pathways can lead to a group of rare genetic syndromes known as Congenital Disorders of Glycosylation (CDG). One of the workflows applied to study human diseases includes animal models, such as the zebrafish. This systematic review aims to explore the utility of the zebrafish model in studying congenital disorders of glycosylation. For this purpose, searches were conducted in PubMed, Web of Science, and Scopus using terms related to congenital disorders of glycosylation and zebrafish, covering studies published up to November 2024. A total of 36 articles were identified based on the inclusion criteria. The results provide a comprehensive overview of these studies. The analysis reveals that CDGs related to N-glycosylation are the most frequently studied, morpholinos are the predominant technique used, zebrafish glycosylation genes exhibit a high degree of homology with human genes, and zebrafish models successfully replicate many of the clinical features observed in human CDG patients. This review highlights that zebrafish is a valuable strategy for studying CDG, offering important insights into the pathophysiology of these disorders and contributing to the development of potential therapeutic approaches.
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