Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells
Jill M. Haenfler; Geena Skariah; Caitlin M. Rodriguez; André Monteiro da Rocha; Jack M. Parent; Gary D. Smith; Peter K. Todd · 2018 · Frontiers in Molecular Neuroscience
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract
Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and autism. It results from expansion of a CGG nucleotide repeat in the 5’ untranslated region of FMR1. Large expansions elicit repeat and promoter hyper-methylation, heterochromatin formation, FMR1 transcriptional silencing, and loss of the Fragile X protein, FMRP. Efforts aimed at correcting the sequelae resultant from FMRP loss have thus far proven insufficient, perhaps because of FMRP’s pleiotropic functions. As the repeats do not disrupt the FMRP coding sequence, reactivation of endogenous FMR1 gene exp
Abstract by Jill M. Haenfler; Geena Skariah; Caitlin M. Rodriguez; André Monteiro da Rocha; Jack M. Parent; Gary D. Smith; Peter K. Todd, Frontiers in Molecular Neuroscience (2018) — licensed CC BY 4.0.
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Metadata source: OpenAlex · DOI 10.3389/fnmol.2018.00282