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An iPSC model of fragile X syndrome reflects clinical phenotypes and reveals m <sup>6</sup> A- mediated epi-transcriptomic dysregulation underlying synaptic dysfunction

2024-10-17

Abstract excerpt

Fragile X syndrome (FXS), the leading genetic cause of intellectual disability, arises from FMR1 gene silencing and loss of the FMRP protein. N6-methyladenosine (m 6 A) is a prevalent mRNA modification essential for post-transcriptional regulation. FMRP is known to bind to and regulate the stability of m 6 A-containing transcripts. However, how loss of FMRP impacts on transcriptome-wide m 6 A modifications in...

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Literature Corpus work
77c0d50d-f6cf-5606-b982-6be70149f74a
DOI
10.1101/2024.10.14.618205
Open publication

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An iPSC model of fragile X syndrome reflects clinical phenotypes and reveals m <sup>6</sup> A- mediated epi-transcriptomic dysregulation underlying synaptic dysfunctionDOI 10.1101/2024.10.14.618205
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