Peter K. Todd

The paper determines the structure of C9orf72 RAN translation initiation complexes and identifies a key RNA-RNA interaction that drives DPR production, suggesting a therapeutic target.

The paper shows that neurons prefer cap-independent RAN translation from specific repeats, linked to altered start codon stringency and eIF1 redistribution.

The paper investigates RAN translation from HTT CAG repeats, showing it occurs in multiple reading frames without AUG start codons and is detectable in neurons.

ChatMDV provides a natural language interface for generating interactive visualizations of biological data using large language models and the MDV platform.

The paper identifies cryptic intronic C9orf72 transcripts as endogenous templates for RAN translation, leading to DPR production in ALS/FTD.

The paper identifies RFC1 AAGGG repeat expansions in idiopathic peripheral neuropathy patients using a new computational pipeline and finds both heterozygous and homozygous expansions contribute to the condition.

This study shows that AAGGG repeat expansions cause synaptic defects in CANVAS neurons independently of RFC1, with phenotypes corrected by repeat deletion.

This study investigates the role of stress granule formation in neurodegeneration, finding that reducing stress granules exacerbates disease phenotypes in models of ataxia, ALS, and FTD.

This study identifies TDP43 autoregulation as a source of shortened isoforms, showing they are regulated by NMD and post-translational degradation, and their dysregulation leads to neurodegeneration.

The paper shows that ribosomal quality control factors reduce toxic repeat-associated non-AUG translation from GC-rich repeats by preventing ribosomal stalling.

This study shows that DENR/MCTS1 knockdown inhibits RAN translation of expanded repeats and improves Drosophila survival.

This study shows that DHX36 modulates RAN translation from G4C2 repeats, with depletion suppressing and overexpression enhancing translation.

This study compares hybridization chain reaction (HCR) to FISH for detecting repeat RNA foci in neurodegenerative disorders, finding HCR to be significantly more sensitive.

The paper identifies RAN translation modifiers and suppressors of repeat toxicity by studying CGG repeat RNA-binding proteins in vivo.

The paper identifies and quantifies FMRpolyG, a toxic RAN translation product from FMR1 CGG repeats, using mass spectrometry in FXTAS patient samples and cell models.

This paper shows that the carboxyl-termini of RAN translated DPRs from GGGGCC repeats affect toxicity in ALS/FTD models, with GR DPRs showing greater toxicity due to their unstructured C-termini.

The paper investigates RAN translation products in FXTAS brains, finding FMRpolyG accumulates in ubiquitin and p62-positive inclusions, while FMRpolyA is less abundant and less frequently co-localized.

The paper uses ribosome profiling to analyze uORF translation in neuronal differentiation, finding that uORFs correlate with repressed CDS translation and buffer CDS translation shifts.

This study reactivates FMR1 transcription in FXS patient cells using CRISPR/dCAS9 and VP192, increasing FMRP levels and demonstrating a potential therapeutic approach for Fragile X Syndrome.