Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder
caused by a limited expansion of CGG repeats in the 5′ UTR of FMR1. Two mechanisms …

Proteins localized in the inner nuclear membrane (INM) engage in various fundamental
cellular processes via their interactions with outer nuclear membrane (ONM) proteins and …

Epilepsy is an international public health concern that greatly affects patients' health and
lifestyle. About 30% of patients do not respond to available therapies, making new research …

DNA elimination is a radical form of gene silencing and occurs both in somatic and germ
cells. The programmed DNA elimination occurs during gametogenesis in interspecies …

SMCHD1 is an epigenetic regulatory protein known to modulate the targeted repression of
large chromatin domains. Diminished SMCHD1 function in muscle fibers causes …

Emerin is an essential LEM (LAP2, Emerin, MAN1) domain protein in metazoans and an
integral membrane protein associated with inner and outer nuclear membranes. Mutations …

Fragile X and fragile X-associated tremor-ataxia syndrome (FXTAS) are caused by
mutations of the FMR1 gene. The mutations causing FXTAS can expand in a generation to a …

Cellular behavior is continuously influenced by mechanical forces. These forces span the
cytoskeleton and reach the nucleus, where they trigger mechanotransduction pathways that …

The expansion of short tandem repeats located in either coding or non-coding regions of
different genes underlies the pathogenesis of diverse human neurological diseases. The …

Fragile X-associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disorder
associated with a premutation repeat expansion (55-200 CGG repeats) in the 5'noncoding …