Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

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Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

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Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death

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The mGluR theory of fragile X mental retardation

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Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila

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Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

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Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines

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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

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A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins

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Hallmarks of neurodegenerative diseases

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Enriched environments, experience-dependent plasticity and disorders of the nervous system

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RNA phase transitions in repeat expansion disorders

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RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

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Variable tandem repeats accelerate evolution of coding and regulatory sequences

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Characterizing the Major Structural Variant Alleles of the Human Genome

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The sequences of 150,119 genomes in the UK Biobank

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Detection of long repeat expansions from PCR-free whole-genome sequence data

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ATAXIN-1 Interacts with the Repressor Capicua in Its Native Complex to Cause SCA1 Neuropathology

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RNA toxicity is a component of ataxin-3 degeneration in Drosophila

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S-Glutathionylation: From Molecular Mechanisms to Health Outcomes

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DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

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The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies

Bauer, P. O., & Nukina, N. (2009) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2009.06302.x · Cited by 178

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

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Dissecting the role of low-complexity regions in the evolution of vertebrate proteins

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p62 Plays a Protective Role in the Autophagic Degradation of Polyglutamine Protein Oligomers in Polyglutamine Disease Model Flies

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Faulty splicing and cytoskeleton abnormalities in Huntington's disease

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Homotypic RNA clustering accompanies a liquid-to-solid transition inside the core of multi-component biomolecular condensates

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Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia

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SOS Repair and DNA Supercoiling Influence the Genetic Stability of DNA Triplet Repeats in Escherichia coli

Majchrzak, M., Bowater, R. P., Staczek, P., & Parniewski, P. (2006) · Journal of Molecular Biology · doi:10.1016/j.jmb.2006.08.093 · Cited by 29

RNA-Binding Protein Hoip Accelerates PolyQ-Induced Neurodegeneration in Drosophila

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