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Modelling Protein Synthesis as A Biomarker in Fragile X Syndrome Patient-Derived Cells

Centre for Brain Development and Repair, Institute for Stem Cell Biology and Regenerative Medicine, GKVK Post, Bellary Road, Bengaluru 560065, India
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Brain Sci. 2019, 9(3), 59; https://doi.org/10.3390/brainsci9030059
Received: 3 December 2018 / Revised: 27 February 2019 / Accepted: 6 March 2019 / Published: 11 March 2019
(This article belongs to the Special Issue Towards Mechanism-based Treatments for Fragile X Syndrome)
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Abstract

The most conserved molecular phenotype of Fragile X Syndrome (FXS) is aberrant protein synthesis. This has been validated in a variety of experimental model systems from zebrafish to rats, patient-derived lymphoblasts and fibroblasts. With the advent of personalized medicine paradigms, patient-derived cells and their derivatives are gaining more translational importance, not only to model disease in a dish, but also for biomarker discovery. Here we review past and current practices of measuring protein synthesis in FXS, studies in patient derived cells and the inherent challenges in measuring protein synthesis in them to offer usable avenues of modeling this important metabolic metric for further biomarker development. View Full-Text
Keywords: protein synthesis; Fragile X Syndrome; biomarker; iPSC; fibroblast; lymphoblast protein synthesis; Fragile X Syndrome; biomarker; iPSC; fibroblast; lymphoblast
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Pal, R.; Bhattacharya, A. Modelling Protein Synthesis as A Biomarker in Fragile X Syndrome Patient-Derived Cells. Brain Sci. 2019, 9, 59.

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