Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Small molecule recognition of disease-relevant RNA structures

SM Meyer, CC Williams, Y Akahori, T Tanaka… - Chemical Society …, 2020 - pubs.rsc.org
Targeting RNAs with small molecules represents a new frontier in drug discovery and
development. The rich structural diversity of folded RNAs offers a nearly unlimited reservoir …

Antisense oligonucleotide rescue of CGG expansion–dependent FMR1 mis-splicing in fragile X syndrome restores FMRP

S Shah, KJ Sharp, S Raju Ponny… - Proceedings of the …, 2023 - National Acad Sciences
Aberrant alternative splicing of mRNAs results in dysregulated gene expression in multiple
neurological disorders. Here, we show that hundreds of mRNAs are incorrectly expressed …

Trinucleotide repeat disorders

HT Orr, HY Zoghbi - Annu. Rev. Neurosci., 2007 - annualreviews.org
The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …

Unraveling the functional role of DNA demethylation at specific promoters by targeted steric blockage of DNA methyltransferase with CRISPR/dCas9

DM Sapozhnikov, M Szyf - Nature Communications, 2021 - nature.com
Despite four decades of research to support the association between DNA methylation and
gene expression, the causality of this relationship remains unresolved. Here, we reaffirm that …

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

C Bagni, F Tassone, G Neri… - The Journal of clinical …, 2012 - Am Soc Clin Investig
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is
also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet …

Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies

RG Urdinguio, JV Sanchez-Mut, M Esteller - The Lancet Neurology, 2009 - thelancet.com
Epigenetic mechanisms such as DNA methylation and modifications to histone proteins
regulate high-order DNA structure and gene expression. Aberrant epigenetic mechanisms …

Epigenetic regulation of gene expression in physiological and pathological brain processes

J Gräff, D Kim, MM Dobbin, LH Tsai - Physiological reviews, 2011 - journals.physiology.org
Over the past decade, it has become increasingly obvious that epigenetic mechanisms are
an integral part of a multitude of brain functions that range from the development of the …

Epigenetic regulations in neuropsychiatric disorders

JN Kuehner, EC Bruggeman, Z Wen, B Yao - Frontiers in genetics, 2019 - frontiersin.org
Precise genetic and epigenetic spatiotemporal regulation of gene expression is critical for
proper brain development, function and circuitry formation in the mammalian central nervous …

Epigenetic targets of HDAC inhibition in neurodegenerative and psychiatric disorders

T Abel, RS Zukin - Current opinion in pharmacology, 2008 - Elsevier
Epigenetic chromatin remodeling and modifications of DNA represent central mechanisms
for regulation of gene expression during brain development and in memory formation …