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https://biore.bio.bg.ac.rs/handle/123456789/5281
Title: | 𝘋𝘳𝘰𝘴𝘰𝘱𝘩𝘪𝘭𝘢 𝘮𝘦𝘭𝘢𝘯𝘰𝘨𝘢𝘴𝘵𝘦𝘳 as a Model to Study Fragile X-Associated Disorders | Authors: | Trajković, Jelena Makević, Vedrana Pešić, Milica Pavković-Lučić, Sofija Milojević, Sara Cvjetković, Smiljana Hagerman, Randi Budimirović, Dejan Protić, Dragana |
Keywords: | Fragile X syndrome;FXTAS;FMR1 gene;FMRP;Drosophila melanogaster | Issue Date: | 2023 | Rank: | M22 | Publisher: | MDPI | Journal: | Genes | Volume: | 14 | Issue: | 1 | Abstract: | Fragile X syndrome (FXS) is a global neurodevelopmental disorder caused by the expansion of CGG trinucleotide repeats (≥200) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. FXS is the hallmark of Fragile X-associated disorders (FXD) and the most common monogenic cause of inherited intellectual disability and autism spectrum disorder. There are several animal models used to study FXS. In the FXS model of Drosophila, the only ortholog of FMR1, dfmr1, is mutated so that its protein is missing. This model has several relevant phenotypes, including defects in the circadian output pathway, sleep problems, memory deficits in the conditioned courtship and olfactory conditioning paradigms, deficits in social interaction, and deficits in neuronal development. In addition to FXS, a model of another FXD, Fragile X-associated tremor/ataxia syndrome (FXTAS), has also been established in Drosophila. This review summarizes many years of research on FXD in Drosophila models. |
URI: | https://biore.bio.bg.ac.rs/handle/123456789/5281 | ISSN: | 2073-4425 | DOI: | 10.3390/genes14010087 |
Appears in Collections: | Journal Article |
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