Combined overexpression of ATXN1L and mutant ATXN1 knockdown by AAV rescue motor phenotypes and gene signatures in SCA1 mice

Toxicity after AAV delivery of RNAi expression constructs into nonhuman primate brain

(2021) Megan S. Keiser et al.   NATURE MEDICINE

Cholecystokinin 1 receptor activation restores normal mTORC1 signaling and is protective to Purkinje cells of SCA mice

(2021) Emily A.L. Wozniak et al.   Cell Reports

Genetic inactivation of mTORC1 or mTORC2 in neurons reveals distinct functions in glutamatergic synaptic transmission

(2020) Matthew P McCabe et al.   eLife

ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism

(2018) Maxime W.C. Rousseaux et al.   NEURON

Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2

(2017) Lance T. Pflieger et al.   HUMAN MOLECULAR GENETICS

RNAi prevents and reverses phenotypes induced by mutant human ataxin-1

(2016) Megan S. Keiser et al.   ANNALS OF NEUROLOGY

Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways

(2016) Melissa Ingram et al.   NEURON

Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy

(2015) Megan S. Keiser et al.   BRAIN

Early activation of microglia and astrocytes in mouse models of spinocerebellar ataxia type 1

(2015) M. Cvetanovic et al.   NEUROSCIENCE

Broad Therapeutic Benefit After RNAi Expression Vector Delivery to Deep Cerebellar Nuclei: Implications for Spinocerebellar Ataxia Type 1 Therapy

(2014) Megan S Keiser et al.   MOLECULAR THERAPY

RNAi or overexpression: Alternative therapies for Spinocerebellar Ataxia Type 1

(2013) Megan S. Keiser et al.   NEUROBIOLOGY OF DISEASE

Altered Purkinje cell miRNA expression and SCA1 pathogenesis

(2013) Edgardo Rodriguez-Lebron et al.   NEUROBIOLOGY OF DISEASE

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Mammalian Target of Rapamycin Complex 1 (mTORC1) and 2 (mTORC2) Control the Dendritic Arbor Morphology of Hippocampal Neurons

(2012) Malgorzata Urbanska et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Retrograde Changes in Presynaptic Function Driven by Dendritic mTORC1

(2012) F. E. Henry et al.   JOURNAL OF NEUROSCIENCE

Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1

(2011) Marija Cvetanovic et al.   NATURE MEDICINE

Selective pharmacogenetic inhibition of mammalian target of Rapamycin complex I (mTORC1) blocks long-term synaptic plasticity and memory storage

(2011) Loredana Stoica et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activation of a Metabolic Gene Regulatory Network Downstream of mTOR Complex 1

(2010) Katrin Düvel et al.   MOLECULAR CELL

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

(2010) Juan Crespo-Barreto et al.   PLoS Genetics

Artificial MicroRNAs as siRNA Shuttles: Improved Safety as Compared to shRNAs In vitro and In vivo

(2008) Ryan L Boudreau et al.   MOLECULAR THERAPY

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE

The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7

(2008) J. R. Gatchel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA