TorsinA dysfunction causes persistent neuronal nuclear pore defects

Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport

(2017) Fatima Gasset-Rosa et al.   NEURON

Mutant Huntingtin Disrupts the Nuclear Pore Complex

(2017) Jonathan C. Grima et al.   NEURON

Chm7 and Heh1 collaborate to link nuclear pore complex quality control with nuclear envelope sealing

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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

Dissecting Torsin/cofactor function at the nuclear envelope: a genetic study

(2016) Ethan Laudermilch et al.   MOLECULAR BIOLOGY OF THE CELL

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

Optogenetic control of nuclear protein export

(2016) Dominik Niopek et al.   Nature Communications

Neuronal Nuclear Membrane Budding Occurs during a Developmental Window Modulated by Torsin Paralogs

(2016) Lauren M. Tanabe et al.   Cell Reports

Nuclear pore assembly proceeds by an inside-out extrusion of the nuclear envelope

(2016) Shotaro Otsuka et al.   eLife

Nup153 Recruits the Nup107-160 Complex to the Inner Nuclear Membrane for Interphasic Nuclear Pore Complex Assembly

(2015) Benjamin Vollmer et al.   DEVELOPMENTAL CELL

A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation

(2015) Corinne E. Weisheit et al.   HUMAN MOLECULAR GENETICS

A novel function for the Caenorhabditis elegans torsin OOC-5 in nucleoporin localization and nuclear import

(2015) Michael J. W. VanGompel et al.   MOLECULAR BIOLOGY OF THE CELL

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons

(2015) Samuel S Pappas et al.   eLife

Cell biological mechanisms of activity-dependent synapse to nucleus translocation of CRTC1 in neurons

(2015) Toh Hean Ch'ng et al.   Frontiers in Molecular Neuroscience

Surveillance of Nuclear Pore Complex Assembly by ESCRT-III/Vps4

(2014) Brant M. Webster et al.   CELL

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

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

Protein quality control at the inner nuclear membrane

(2014) Anton Khmelinskii et al.   NATURE

Inherited Isolated Dystonia: Clinical Genetics and Gene Function

(2014) William Dauer   Neurotherapeutics

Quality control of inner nuclear membrane proteins by the Asi complex

(2014) O. Foresti et al.   SCIENCE

Encoding and Transducing the Synaptic or Extrasynaptic Origin of NMDA Receptor Signals to the Nucleus

(2013) Anna Karpova et al.   CELL

Emerging concepts in the physiological basis of dystonia

(2013) Angelo Quartarone et al.   MOVEMENT DISORDERS

Torsin Mediates Primary Envelopment of Large Ribonucleoprotein Granules at the Nuclear Envelope

(2013) Vahbiz Jokhi et al.   Cell Reports

Activity-Dependent Transport of the Transcriptional Coactivator CRTC1 from Synapse to Nucleus

(2012) Toh Hean Ch'ng et al.   CELL

Ubiquitylation of the nuclear pore complex controls nuclear migration during mitosis inS. cerevisiae

(2012) Akira Hayakawa et al.   JOURNAL OF CELL BIOLOGY

Extremely Long-Lived Nuclear Pore Proteins in the Rat Brain

(2012) J. N. Savas et al.   SCIENCE

The nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex component

(2011) Michael T Jungwirth et al.   BMC CELL BIOLOGY

Synapse-to-nucleus signaling

(2011) Toh Hean Ch’ng et al.   CURRENT OPINION IN NEUROBIOLOGY

POM121 and Sun1 play a role in early steps of interphase NPC assembly

(2011) Jessica A. Talamas et al.   JOURNAL OF CELL BIOLOGY

TorsinA participates in endoplasmic reticulum-associated degradation

(2011) Flávia C. Nery et al.   Nature Communications

The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro

(2010) Alexander J. Burdette et al.   CELL STRESS & CHAPERONES

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response

(2010) Pan Chen et al.   HUMAN MOLECULAR GENETICS

Abnormal plasticity in dystonia: Disruption of synaptic homeostasis

(2010) Angelo Quartarone et al.   NEUROBIOLOGY OF DISEASE

A molecular mechanism underlying the neural-specific defect in torsinA mutant mice

(2010) C. E. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Nuclear Pore Complex and Nuclear Transport

(2010) S. R. Wente et al.   Cold Spring Harbor Perspectives in Biology

Age-Dependent Deterioration of Nuclear Pore Complexes Causes a Loss of Nuclear Integrity in Postmitotic Cells

(2009) Maximiliano A. D'Angelo et al.   CELL

Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia

(2009) M. Argyelan et al.   JOURNAL OF NEUROSCIENCE

Orchestrating nuclear envelope disassembly and reassembly during mitosis

(2009) Stephan Güttinger et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Nuclear transport factors in neuronal function

(2009) Rotem Ben-Tov Perry et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Nucleocytoplasmic protein shuttling: the direct route in synapse-to-nucleus signaling

(2009) Bryen A. Jordan et al.   TRENDS IN NEUROSCIENCES

Communication Between the Synapse and the Nucleus in Neuronal Development, Plasticity, and Disease

(2008) Sonia Cohen et al.   Annual Review of Cell and Developmental Biology

Sun1 forms immobile macromolecular assemblies at the nuclear envelope

(2008) Wenshu Lu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells

(2008) J. W. Hewett et al.   HUMAN MOLECULAR GENETICS

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton

(2008) F. C. Nery et al.   JOURNAL OF CELL SCIENCE