Article

Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on <em>FMR1</em> Premutation

2023-07-10

Abstract excerpt

The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region, and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X premutation-associated conditions (FXPAC) include co-transcriptional R loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear...

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Literature Corpus work: deb48d30-e050-5d42-a32d-74fa9c83f2eb
DOI: 10.20944/preprints202307.0605.v1

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