RNA-binding proteins in human genetic disease

F Gebauer, T Schwarzl, J Valcárcel… - Nature Reviews …, 2021 - nature.com
RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their
malfunction underlies the origin of many diseases. RBPs can recognize hundreds of …

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 …

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

J Sone, S Mitsuhashi, A Fujita, T Mizuguchi… - Nature …, 2019 - nature.com
Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease
that is characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic …

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

H Ishiura, S Shibata, J Yoshimura, Y Suzuki, W Qu… - Nature …, 2019 - nature.com
Noncoding repeat expansions cause various neuromuscular diseases, including myotonic
dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic …

[HTML][HTML] Rescue of fragile X syndrome neurons by DNA methylation editing of the FMR1 gene

XS Liu, H Wu, M Krzisch, X Wu, J Graef, J Muffat… - Cell, 2018 - cell.com
Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males,
is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG …

Repeat expansion diseases

H Paulson - Handbook of clinical neurology, 2018 - Elsevier
More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

RNA-binding proteins with prion-like domains in health and disease

AF Harrison, J Shorter - Biochemical Journal, 2017 - portlandpress.com
Approximately 70 human RNA-binding proteins (RBPs) contain a prion-like domain (PrLD).
PrLDs are low-complexity domains that possess a similar amino acid composition to prion …

Non-AUG translation: a new start for protein synthesis in eukaryotes

MG Kearse, JE Wilusz - Genes & development, 2017 - genesdev.cshlp.org
Although it was long thought that eukaryotic translation almost always initiates at an AUG
start codon, recent advancements in ribosome footprint mapping have revealed that non …

State of play in amyotrophic lateral sclerosis genetics

AE Renton, A Chiò, BJ Traynor - Nature neuroscience, 2014 - nature.com
Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …