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

Staufen1 in Human Neurodegeneration

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Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias

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

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

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Polyglutamine spinocerebellar ataxias — from genes to potential treatments

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Impaired mTORC1-Dependent Expression of Homer-3 Influences SCA1 Pathophysiology

(2016) Céline Ruegsegger et al.   NEURON

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

(2016) Melissa Ingram et al.   NEURON

Metabolic Actions of the Type 1 Cholecystokinin Receptor: Its Potential as a Therapeutic Target

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mTORC1 and mTORC2 have largely distinct functions in Purkinje cells

(2015) Nico Angliker et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Reinstating Aberrant mTORC1 Activity in Huntington’s Disease Mice Improves Disease Phenotypes

(2015) John H. Lee et al.   NEURON

Trimmomatic: a flexible trimmer for Illumina sequence data

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TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

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Brain pathology of spinocerebellar ataxias

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Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2

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Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

(2012) Cole Trapnell et al.   Nature Protocols

Update on degenerative ataxias

(2011) Thomas Klockgether   CURRENT OPINION IN NEUROLOGY

Improving RNA-Seq expression estimates by correcting for fragment bias

(2011) Adam Roberts et al.   GENOME BIOLOGY

Cholecystokinin: A multi-functional molecular switch of neuronal circuits

(2010) Soo Yeun Lee et al.   Developmental Neurobiology

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

SCA1-like Disease in Mice Expressing Wild-Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776

(2010) Lisa Duvick et al.   NEURON

Therapeutic potential for novel drugs targeting the type 1 cholecystokinin receptor

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Functional organization of the transcriptome in human brain

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