Harry T. Orr

This paper develops a CRISPR knock-in mouse model of SCA5 L253P mutation, showing impaired motor activity and altered beta-III-spectrin localization in cerebellar Purkinje neurons.

This study identifies mutant ATAXIN-1's role in respiratory dysfunction in SCA1 mice by analyzing neural and skeletal muscle lineages.

This study shows that mutant ATXN1 affects microglia in human and mouse models, leading to cognitive, mood, and motor deficits in SCA1 mice, which are ameliorated by reducing mutant ATXN1 in microglia.

The paper identifies sense and antisense RAN proteins as a common mechanism in CAG-SCAs, showing their accumulation and toxicity in brain regions and demonstrating metformin's ability to reduce RAN protein levels.

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 longitudinal single-nucleus RNA sequencing to analyze transcriptional dynamics in SCA1 cerebellum, identifying early cellular changes and applying deep learning to predict disease state.

This study identifies increased intrinsic membrane excitability in SCA1-KI mice as a novel mechanism underlying hypertrophic olivary degeneration without inhibitory denervation.

The paper uses snRNA-seq to study Purkinje cells in SCA7 mice, revealing zebrin-II subtype loss as a key feature of polyglutamine ataxias.

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.

This study shows disrupting ATXN1 nuclear localization in a SCA1 mouse model reduces disease-like phenotypes and alters region-specific transcriptomic profiles.

The paper shows that activating the Cck1R pathway reduces mTORC1 signaling and protects Purkinje neurons in SCA mouse models.