Stefan M. Pulst

The paper examines the localization of tRNA-splicing ligase complex proteins in SCA4 pontine neurons, finding their accumulation in neuronal intranuclear inclusions.

This study shows that viral vector-mediated SLC9A6 gene replacement improves cerebellar dysfunction and motor phenotypes in shaker rats with Christianson syndrome.

The paper introduces a naive Bayes classifier to automate grooming behavior analysis in mice using force-plate actometry, achieving high accuracy and demonstrating its utility in tic disorder models.

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

The paper identifies a Slc9a6 mutation causing Purkinje cell loss and ataxia in shaker rats and shows gene therapy can reverse the phenotype.

This paper develops antisense oligonucleotides targeting STAU1 to treat ALS and SCA2, showing efficacy in reducing STAU1 expression and improving disease markers in mouse models.

The paper investigates how STAU1 interacts with mTOR to hyperactivate it and inhibit autophagy in neurodegenerative disease models.

The paper identifies MFN2 mutations in ALS patients and shows they impair mitochondrial function and increase TDP-43 levels in zebrafish models.

This study shows that expanded ATXN2 transcripts are toxic and disrupt rRNA processing in SCA2, similar to expanded HTT transcripts in HD, suggesting a shared mechanism in repeat expansion diseases.

This study investigates how the size and shape of deep brain stimulation contacts affect neural selectivity, finding that smaller contacts better constrain activation to nearby grey matter but are less energy efficient.

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

This study identifies STAU1 as a modulator of the UPR that promotes apoptosis via the PERK-CHOP pathway in response to ER stress.

This study investigates how pulse width tuning and segmented electrodes affect deep brain stimulation, finding that long pulse widths reduce side effects and improve battery efficiency.

The paper identifies TP73 variants as risk factors for ALS through exome sequencing and functional assays in cell lines and zebrafish.

This study identifies MTSS1/Src family kinase dysregulation as a common mechanism in multiple inherited ataxias and shows SFK inhibitors can delay disease progression in mouse models.