Amy Krans

Structural basis for repeat-associated non-AUG translation initiation on C9orf72 mRNA

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.

Altered neuronal start codon stringency favors cap-independent repeat-associated non-AUG translation

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

Mechanistic insights into RAN translation within the Huntingtin coding sequence

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.

Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation

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

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons

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

Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats

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

The RNA helicase DHX36/G4R1 modulates C9orf72 GGGGCC repeat-associated translation

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

Enhanced detection of nucleotide repeat mRNA with hybridization chain reaction

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 carboxyl-termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD

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.

Neuropathology of RAN translation proteins in Fragile X-associated Tremor/Ataxia Syndrome

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.