The molecular biology of FMRP: new insights into fragile X syndrome

JD Richter, X Zhao - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …

G-quadruplexes and their regulatory roles in biology

D Rhodes, HJ Lipps - Nucleic acids research, 2015 - academic.oup.com
Abstract 'If G-quadruplexes form so readily in vitro, Nature will have found a way of using
them in vivo'(Statement by Aaron Klug over 30 years ago). During the last decade, four …

N6-methyladenosine (m6A) recruits and repels proteins to regulate mRNA homeostasis

RR Edupuganti, S Geiger, RGH Lindeboom… - Nature structural & …, 2017 - nature.com
RNA modifications are integral to the regulation of RNA metabolism. One abundant mRNA
modification is N 6-methyladenosine (m6A), which affects various aspects of RNA …

FMRP promotes transcription-coupled homologous recombination via facilitating TET1-mediated m5C RNA modification demethylation

H Yang, Y Wang, Y Xiang, T Yadav… - Proceedings of the …, 2022 - National Acad Sciences
RNA modifications regulate a variety of cellular processes including DNA repair. The RNA
methyltransferase TRDMT1 generates methyl-5-cytosine (m5C) on messenger RNA (mRNA) …

RGG/RG motif regions in RNA binding and phase separation

PA Chong, RM Vernon, JD Forman-Kay - Journal of molecular biology, 2018 - Elsevier
Abstract RGG/RG motifs are RNA binding segments found in many proteins that can partition
into membraneless organelles. They occur in the context of low-complexity disordered …

A synaptic perspective of fragile X syndrome and autism spectrum disorders

C Bagni, RS Zukin - Neuron, 2019 - cell.com
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …

Mechanisms and regulation of alternative pre-mRNA splicing

Y Lee, DC Rio - Annual review of biochemistry, 2015 - annualreviews.org
Precursor messenger RNA (pre-mRNA) splicing is a critical step in the posttranscriptional
regulation of gene expression, providing significant expansion of the functional proteome of …

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

HW Gabel, B Kinde, H Stroud, CS Gilbert, DA Harmin… - Nature, 2015 - nature.com
Disruption of the MECP2 gene leads to Rett syndrome (RTT), a severe neurological disorder
with features of autism. MECP2 encodes a methyl-DNA-binding protein that has been …

[HTML][HTML] FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

JC Darnell, SJ Van Driesche, C Zhang, KYS Hung… - Cell, 2011 - cell.com
FMRP loss of function causes Fragile X syndrome (FXS) and autistic features. FMRP is a
polyribosome-associated neuronal RNA-binding protein, suggesting that it plays a key role …

Altered neuronal and circuit excitability in fragile X syndrome

A Contractor, VA Klyachko, C Portera-Cailliau - Neuron, 2015 - cell.com
Fragile X syndrome (FXS) results from a genetic mutation in a single gene yet produces a
phenotypically complex disorder with a range of neurological and psychiatric problems …