Daniel R. Scoles

Accumulation of FAM98B and tRNA-Splicing Ligase Complex Proteins in Neuronal Intranuclear Inclusions in Spinocerebellar ataxia type 4.

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

Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome

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

Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias

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

Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat

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

Targeting Staufen 1 with antisense oligonucleotides for treating ALS and SCA2

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.

Staufen blocks autophagy in neurodegeneration

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

Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in Spinocerebellar ataxia type 1

Staufen 1 amplifies pro-apoptotic activation of the unfolded protein response.

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

MTSS1/Src family kinase Dysregulation Underlies Multiple Inherited Ataxias

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.