Vanessa Chantal Wheeler

This study shows that knocking out Msh3 in mice with Huntington's disease slows CAG expansion and reduces pathology, with earlier intervention being more effective.

TRACE is an open-source software that quantifies somatic instability of tandem repeats using capillary electrophoresis data, providing accessible tools for analyzing repeat expansion.

This paper investigates the protective effect of the LIG1 K845N variant in Huntington's disease by showing it increases ligase fidelity and suppresses somatic CAG repeat expansion.

This study investigates how different HTT-lowering therapies affect somatic instability in HD mice, finding that transcriptional repression and CAG repeat binding reduce SI without lowering HTT levels.

This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.

The paper identifies genetic modifiers of Huntington's disease somatic CAG repeat instability using CRISPR-Cas9 in HD knock-in mice, revealing new therapeutic targets.

The paper identifies genetic modifiers of somatic CAG expansion and clinical phenotypes in Huntington's disease, revealing shared and tissue-specific effects on disease timing and pathogenic processes.

This study shows splice modulators like branaplam reduce HTT CAG repeat expansion by affecting PMS1 expression, suggesting PMS1 as a new therapeutic target for Huntington's disease.

The paper develops base editing strategies to convert CAG to CAA in Huntington's disease, reducing CAG repeat expansion and showing therapeutic potential.

This study identifies brain regions and cell types contributing to SCA1 disease using conditional knockout mice, showing that targeting multiple areas and muscle is necessary for effective therapy.

The paper analyzes somatic instability of the CCCTCT repeat in XDP and finds repeat length-dependent expansion in brain regions, with regional patterns and similarities to HTT CAG repeat instability.

The paper identifies FAN1 nuclease activity as a modifier of CAG expansion and age at onset in Huntington's disease through exome sequencing and functional validation.

The paper shows that CAG repeat expansion in Huntington's disease disrupts splicing, reducing circular RNA production and affecting neural progenitors and striatum before symptoms appear.

This study shows that targeting the MLH3 endonuclease domain reduces somatic CAG expansion in Huntington's disease models and patient cells.

This study shows that reducing huntingtin protein levels decreases somatic instability in CAG-expanded loci in both mouse models and human neurons.

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.

Combining amplification-free CRISPR-Cas9 targeted enrichment with Single Molecule, Real-Time (SMRT) long-read sequencing captures and sequences human repeat-expansion disease loci across HTT, FMR1, C9orf72, and ATXN10 without PCR bias.

This study shows that B6.HttQ111/+ mice exhibit early transcriptional and proteostatic deficits before synapse loss and neurodegeneration in HD.

The paper builds genome-scale transcriptional regulatory networks for mouse and human striatum, identifying SMAD3 as a key regulator in Huntington’s disease.