Samuel S. Pappas

Striatal cholinergic interneuron pathology and muscarinic signaling independently shape motor dysfunction in a DYT-TOR1A dystonia model

This study investigates the role of striatal cholinergic interneuron pathology and muscarinic signaling in dystonia using a mouse model, showing that ChI degeneration contributes to motor dysfunction but is not required for antimuscarinic drug effects.

Altair-dvOPM: an open-access platform for large-field three-dimensional tissue imaging

Altair-dvOPM is an open-access microscope for large-field 3D tissue imaging, achieving micrometer resolution without custom objectives or specialized alignment.

Increased intrinsic membrane excitability is associated with hypertrophic olivary degeneration in spinocerebellar ataxia type 1

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

A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding

This study shows that the DYT-THAP1 mutation F81L impairs THAP1 transcriptional activity and disrupts CNS myelination by reducing YY1 DNA binding.

THAP1 Modulates Oligodendrocyte Maturation by Regulating ECM Degradation in Lysosomes

This study shows THAP1 regulates oligodendrocyte maturation by controlling lysosomal degradation of glycosaminoglycans in OPCs.

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

This study shows that increasing torsinB levels can reduce abnormal movements and neurodegeneration in DYT1 dystonia mouse models caused by torsinA loss-of-function.