Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome

(2017) Jianfeng Xiao et al.   NEUROBIOLOGY OF DISEASE

Genetic silencing of olivocerebellar synapses causes dystonia-like behaviour in mice

(2017) Joshua J. White et al.   Nature Communications

A role for cerebellum in the hereditary dystonia DYT1

(2017) Rachel Fremont et al.   eLife

Role for Torsin in Lipid Metabolism

(2016) Aurelio A. Teleman   DEVELOPMENTAL CELL

Torsins Are Essential Regulators of Cellular Lipid Metabolism

(2016) Micheline Grillet et al.   DEVELOPMENTAL CELL

Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1 Knock-in Mice Implicates Novel Pathways in Dystonia Pathogenesis

(2016) Genevieve Beauvais et al.   JOURNAL OF NEUROSCIENCE

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing

(2016) Aloysius Domingo et al.   MOVEMENT DISORDERS

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia

(2016) Joseph E. Rittiner et al.   NEURON

Translational control by eIF2α phosphorylation regulates vulnerability to the synaptic and behavioral effects of cocaine

(2016) Wei Huang et al.   eLife

Abnormalities of motor function, transcription and cerebellar structure in mouse models ofTHAP1dystonia

(2015) Marta Ruiz et al.   HUMAN MOLECULAR GENETICS

Altered Activation of Protein Kinase PKR and Enhanced Apoptosis in Dystonia Cells Carrying a Mutation in PKR Activator Protein PACT

(2015) Lauren S Vaughn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The clinical phenotype of early-onset isolated dystonia caused by recessiveCOL6A3mutations (DYT27)

(2015) Angela Jochim et al.   MOVEMENT DISORDERS

Dopa-responsive dystonia—clinical and genetic heterogeneity

(2015) Subhashie Wijemanne et al.   Nature Reviews Neurology

DYT6 Dystonia: A Neuropathological Study

(2015) Reema Paudel et al.   Neurodegenerative Diseases

Ensembl Genomes 2016: more genomes, more complexity

(2015) Paul Julian Kersey et al.   NUCLEIC ACIDS RESEARCH

Tunicamycin-induced unfolded protein response in the developing mouse brain

(2015) Haiping Wang et al.   TOXICOLOGY AND APPLIED PHARMACOLOGY

Specific Downregulation of Hippocampal ATF4 Reveals a Necessary Role in Synaptic Plasticity and Memory

(2015) Silvia Pasini et al.   Cell Reports

Translational Control in Synaptic Plasticity and Cognitive Dysfunction

(2014) Shelly A. Buffington et al.   Annual Review of Neuroscience

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression

(2014) Alev Erogullari et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Recent Advances in the Genetics of Dystonia

(2014) Jianfeng Xiao et al.   Current Neurology and Neuroscience Reports

Separate Cyclic AMP Sensors for Neuritogenesis, Growth Arrest, and Survival of Neuroendocrine Cells

(2014) Andrew C. Emery et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

(2014) Chun-Chi Liang et al.   JOURNAL OF CLINICAL INVESTIGATION

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

The eIF2  kinase PERK limits the expression of hippocampal metabotropic glutamate receptor-dependent long-term depression

(2014) M. A. Trinh et al.   LEARNING & MEMORY

Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α

(2014) Gonzalo Viana Di Prisco et al.   NATURE NEUROSCIENCE

Disturbance of endoplasmic reticulum proteostasis in neurodegenerative diseases

(2014) Claudio Hetz et al.   NATURE REVIEWS NEUROSCIENCE

Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions

(2014) Maitane Ortiz-Virumbrales et al.   Acta Neuropathologica Communications

A rare sequence variant in intron 1 ofTHAP1is associated with primary dystonia

(2014) Satya R. Vemula et al.   Molecular Genetics & Genomic Medicine

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

The genetics of dystonia: new twists in an old tale

(2013) Gavin Charlesworth et al.   BRAIN

IMPACT Is a Developmentally Regulated Protein in Neurons That Opposes the Eukaryotic Initiation Factor 2α Kinase GCN2 in the modulation of Neurite Outgrowth

(2013) Martín Roffé et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ATF4 Protects Against Neuronal Death in Cellular Parkinson's Disease Models by Maintaining Levels of Parkin

(2013) X. Sun et al.   JOURNAL OF NEUROSCIENCE

Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia

(2013) Chang-Hyun Song et al.   NEUROBIOLOGY OF DISEASE

Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia

(2013) Chang-Hyun Song et al.   NEUROBIOLOGY OF DISEASE

Dystonia as a network disorder: What is the role of the cerebellum?

(2013) C.N. Prudente et al.   NEUROSCIENCE

Stress-induced changes in gene interactions in human cells

(2013) Renuka R. Nayak et al.   NUCLEIC ACIDS RESEARCH

The Subread aligner: fast, accurate and scalable read mapping by seed-and-vote

(2013) Yang Liao et al.   NUCLEIC ACIDS RESEARCH

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations

(2012) Georgia Xiromerisiou et al.   MOVEMENT DISORDERS

Sustained translational repression by eIF2α-P mediates prion neurodegeneration

(2012) Julie A. Moreno et al.   NATURE

Generation of a novel rodent model for DYT1 dystonia

(2012) Kathrin Grundmann et al.   NEUROBIOLOGY OF DISEASE

The ubiquitin ligase F-box/G-domain protein 1 promotes the degradation of the disease-linked protein torsinA through the ubiquitin–proteasome pathway and macroautophagy

(2012) K.L. Gordon et al.   NEUROSCIENCE

Neural expression of the transcription factor THAP1 during development in rat

(2012) Y. Zhao et al.   NEUROSCIENCE

Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1

(2012) Sébastien Campagne et al.   NUCLEIC ACIDS RESEARCH

DYT1 Knock-In Mice Are Not Sensitized against Mitochondrial Complex-II Inhibition

(2012) Nicole Bode et al.   PLoS One

Transcriptional activation of endoplasmic reticulum chaperone GRP78 by HCMV IE1-72 protein

(2011) Derick Shi-Chen Ou et al.   CELL RESEARCH

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

(2011) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Developmental Profile of the Aberrant Dopamine D2 Receptor Response in Striatal Cholinergic Interneurons in DYT1 Dystonia

(2011) Giuseppe Sciamanna et al.   PLoS One

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia

(2010) Sophie Gavarini et al.   ANNALS OF NEUROLOGY

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)

(2010) Frank J. Kaiser et al.   ANNALS OF NEUROLOGY

Presynaptic BDNF Promotes Postsynaptic Long-Term Potentiation in the Dorsal Striatum

(2010) Y. Jia et al.   JOURNAL OF NEUROSCIENCE

Molecular pathways in dystonia

(2010) D. Cristopher Bragg et al.   NEUROBIOLOGY OF DISEASE

Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging

(2010) Martin Niethammer et al.   NEUROBIOLOGY OF DISEASE

Novel THAP1 sequence variants in primary dystonia

(2010) J. Xiao et al.   NEUROLOGY

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

(2010) H. Houlden et al.   NEUROLOGY

Rho and Ras GTPases in Axon Growth, Guidance, and Branching

(2010) A. Hall et al.   Cold Spring Harbor Perspectives in Biology

Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine

(2009) Giuseppina Martella et al.   BRAIN

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

(2009) Tania Fuchs et al.   NATURE GENETICS

Translational Control of Long-Lasting Synaptic Plasticity and Memory

(2009) Mauro Costa-Mattioli et al.   NEURON

Abnormal structure-function relationships in hereditary dystonia

(2009) M. Carbon et al.   NEUROSCIENCE

Transcriptional and proteomic profiling in a cellular model of DYT1 dystonia

(2009) J.N. Martin et al.   NEUROSCIENCE

mTOR signaling: At the crossroads of plasticity, memory and disease

(2009) Charles A. Hoeffer et al.   TRENDS IN NEUROSCIENCES

The basal ganglia and cerebellum interact in the expression of dystonic movement

(2008) V. K. Neychev et al.   BRAIN

Mitochondria in Neuroplasticity and Neurological Disorders

(2008) Mark P. Mattson et al.   NEURON

NeuriteTracer: A novel ImageJ plugin for automated quantification of neurite outgrowth

(2007) Madeline Pool et al.   JOURNAL OF NEUROSCIENCE METHODS