Jim Rosinski

Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease

Large-scale Perturbation of Systems Biology-Derived Genes Reveals Modifiers of HD-associated Transcriptomic Networks and Pathology

The paper uses genetic perturbations to identify modifiers of HD-associated transcriptomic networks and pathology in mice and patient-derived neurons.

Modeling Huntington disease against age-related genes reveals CXXC4 as an epigenetic target to restore DRD1 striatal neuron activity

The paper identifies CXXC4 as an epigenetic target that can restore DRD1 striatal neuron activity in Huntington disease by leveraging age-related gene patterns.

Msh3 and Pms1 Set Neuronal CAG-repeat Migration Rate to Drive Selective Striatal and Cortical Pathogenesis in HD Mice

This study identifies Msh3 and Pms1 as genetic drivers of CAG-repeat migration in HD mice, leading to selective striatal and cortical pathogenesis.

Benefits of global mutant huntingtin lowering diminish over time in a Huntington's disease mouse model

This study shows that moderate global lowering of mutant Huntingtin in a HD mouse model delays some deficits but benefits diminish over time, suggesting long-term mHtt lowering may be needed for sustained benefit.

Expression analysis of Huntington disease mouse models reveals robust striatum disease signatures

The paper analyzes RNA-seq and proteomics data from Huntington disease mouse models to identify disease-specific signatures in the striatum and liver, revealing gender effects and improved proteomics analysis methods.

Combining feature selection and shape analysis uncovers precise rules for miRNA regulation in Huntington's disease mice

The paper introduces miRAMINT, a method combining feature selection and shape analysis to identify miRNA-mRNA pairs in HD mice, revealing 31 precise regulatory relationships in striatum.

Genome-scale transcriptional regulatory network models for the mouse and human striatum predict roles for SMAD3 and other transcription factors in Huntington’s disease

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