Article
Development and characterization of a Drosophila model of Snyder-Robinson syndrome.
Methods in enzymology - 1 Jan 2025
Tao Xianzun, Zhai R Grace
Abstract excerpt
Snyder-Robinson Syndrome (SRS) is an X-linked disorder characterized by intellectual disability, skeletal abnormalities, and immune system dysfunction. SRS is caused by mutations in the spermine synthase (SMS) gene, leading to polyamine dysregulation, and a myriad of cellular dysfunctions. This chapter presents a methodology for developing and characterizing a Drosophila model of SRS that recapitulates phenotypes...
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