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 …

miRNA dosage control in development and human disease

Y Cui, Y Qi, L Ding, S Ding, Z Han, Y Wang, P Du - Trends in Cell Biology, 2024 - cell.com
In mammals, miRNAs recognize target mRNAs via base pairing, which leads to a complex
'multiple-to-multiple'regulatory network. Previous studies have focused on the regulatory …

[HTML][HTML] RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

CJ Donnelly, PW Zhang, JT Pham, AR Haeusler… - Neuron, 2013 - cell.com
A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72
gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral …

Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions

JK Nussbacher, R Tabet, GW Yeo, C Lagier-Tourenne - Neuron, 2019 - cell.com
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

J Yu, J Deng, X Guo, J Shan, X Luan, L Cao, J Zhao… - Brain, 2021 - academic.oup.com
Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease
characterized by progressive ocular, facial, pharyngeal and distal limb muscle involvement …

[HTML][HTML] RNA dysregulation in amyotrophic lateral sclerosis

Z Butti, SA Patten - Frontiers in genetics, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease
and is characterized by the degeneration of upper and lower motor neurons. It has become …

Fragile X-associated tremor/ataxia syndrome—features, mechanisms and management

RJ Hagerman, P Hagerman - Nature Reviews Neurology, 2016 - nature.com
Many physicians are unaware of the many phenotypes associated with the fragile X
premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation …

A superfolding Spinach2 reveals the dynamic nature of trinucleotide repeat–containing RNA

RL Strack, MD Disney, SR Jaffrey - Nature methods, 2013 - nature.com
Imaging RNA in living cells is a challenging problem in cell biology. One strategy for
genetically encoding fluorescent RNAs is to express them as fusions with Spinach, an'RNA …

RNA toxicity in non‐coding repeat expansion disorders

B Swinnen, W Robberecht, L Van Den Bosch - The EMBO journal, 2020 - embopress.org
Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

R Hagerman, P Hagerman - The Lancet Neurology, 2013 - thelancet.com
Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …