Christopher E. Pearson

This paper introduces 3D CYCLIC and TACTIC to enable organ-scale multiplexed protein imaging and co-registration, allowing comprehensive analysis of whole-brain protein profiles.

This study compares striatal pathology in SCA1 and HD mice, finding shared and distinct molecular and functional deficits in Medium Spiny Neurons.

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

This study shows that reducing somatic CAG expansions in HD mice improves motor function and disease markers, suggesting therapeutic potential for HD and similar repeat expansion diseases.

This study identifies the ADNP-KDM1A-GTF2I complex as critical for neural differentiation balance in HVDAS by repressing transposable elements and regulating gene transcription.

The paper investigates FGF14 repeat interruptions in ataxia patients and unaffected individuals, finding that mosaic interruptions (mDRILS) correlate with age at onset and affect pathogenicity.

This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.

This study identifies huntingtin as an RNA-binding protein that interacts with G-rich RNA sequences, including those in the NEAT1 paraspeckle lncRNA.

The paper investigates CAG repeat expansions and their association with cell death in specific brain regions in Huntington's disease using molecular profiling.

The paper investigates the roles of canonical and alternative RPA in CAG repeat diseases, finding that Alt-RPA antagonizes RPA's suppression of CAG expansions, contributing to disease pathogenesis.

The paper quantifies ADNP mutation mosaicism across tissues in a post-mortem autistic individual, showing post-zygotic, tissue-specific mutation patterns and ruling out environmental factors.

The paper identifies genome-wide rare tandem repeat expansions associated with schizophrenia risk by comparing cases and controls.

The paper shows FAN1 nuclease processes and pauses on slipped-DNA repeats, reducing repeat expansions and delaying disease onset.