Related references
Note: Only part of the references are listed.Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
Ivana Lessel et al.
HUMAN GENETICS (2020)
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping
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EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
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Advances in molecular and cell biology of dystonia: Focus on torsinA
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The AAA plus ATPase TorsinA polymerizes into hollow helical tubes with 8.5 subunits per turn
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NATURE COMMUNICATIONS (2019)
DYT1 Dystonia Patient-Derived Fibroblasts Have Increased Deformability and Susceptibility to Damage by Mechanical Forces
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FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2019)
Nuclear envelope -localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis
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JOURNAL OF CLINICAL INVESTIGATION (2019)
An unbiased approach de-livers unexpected insight into torsin biology
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JOURNAL OF CLINICAL INVESTIGATION (2019)
TorsinA dysfunction causes persistent neuronal nuclear pore defects
Samuel S. Pappas et al.
HUMAN MOLECULAR GENETICS (2018)
Postmitotic nuclear pore assembly proceeds by radial dilation of small membrane openings
Shotaro Otsuka et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2018)
Postmitotic nuclear pore assembly proceeds by radial dilation of small membrane openings
Shotaro Otsuka et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2018)
Fantastic nuclear envelope herniations and where to find them
David J. Thaller et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2018)
Excess LINC complexes impair brain morphogenesis in a mouse model of recessive TOR1A disease
Beatriz Dominguez Gonzalez et al.
HUMAN MOLECULAR GENETICS (2018)
TorsinA controls TAN line assembly and the retrograde flow of dorsal perinuclear actin cables during rearward nuclear movement
Cosmo A. Saunders et al.
JOURNAL OF CELL BIOLOGY (2017)
Dynamic functional assembly of the Torsin AAA plus ATPase and its modulation by LAP1
Anna R. Chase et al.
MOLECULAR BIOLOGY OF THE CELL (2017)
Forebrain knock-out of torsinA reduces striatal free-water and impairs whole-brain functional connectivity in a symptomatic mouse model of DYT1 dystonia
Jesse C. DeSimone et al.
NEUROBIOLOGY OF DISEASE (2017)
LEM2 recruits CHMP7 for ESCRT-mediated nuclear envelope closure in fission yeast and human cells
Mingyu Gu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
A role for cerebellum in the hereditary dystonia DYT1
Rachel Fremont et al.
ELIFE (2017)
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor
Ariana Kariminejad et al.
BRAIN (2017)
Torsin ATPases: Harnessing Dynamic Instability for Function
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FRONTIERS IN MOLECULAR BIOSCIENCES (2017)
Torsin ATPases: structural insights and functional perspectives
Ethan Laudermilch et al.
CURRENT OPINION IN CELL BIOLOGY (2016)
Torsins Are Essential Regulators of Cellular Lipid Metabolism
Micheline Grillet et al.
DEVELOPMENTAL CELL (2016)
Chm7 and Heh1 collaborate to link nuclear pore complex quality control with nuclear envelope sealing
Brant M. Webster et al.
EMBO JOURNAL (2016)
Site-specific Proteolysis Mobilizes TorsinA from the Membrane of the Endoplasmic Reticulum (ER) in Response to ER Stress and B Cell Stimulation
Chenguang Zhao et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
Perforating the nuclear boundary - how nuclear pore complexes assemble
Marion Weberruss et al.
JOURNAL OF CELL SCIENCE (2016)
Dissecting Torsin/cofactor function at the nuclear envelope: a genetic study
Ethan Laudermilch et al.
MOLECULAR BIOLOGY OF THE CELL (2016)
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy
Roula Ghaoui et al.
NEUROMUSCULAR DISORDERS (2016)
Nuclear envelope rupture and repair during cancer cell migration
Celine M. Denais et al.
SCIENCE (2016)
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia
F. Esra Demircioglu et al.
ELIFE (2016)
Nuclear pore assembly proceeds by an inside-out extrusion of the nuclear envelope
Shotaro Otsuka et al.
ELIFE (2016)
Phosphorylation Regulates the Ubiquitin-independent Degradation of Yeast Pah1 Phosphatidate Phosphatase by the 20S Proteasome
Lu-Sheng Hsieh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
A novel function for the Caenorhabditis elegans torsin OOC-5 in nucleoporin localization and nuclear import
Michael J. W. VanGompel et al.
MOLECULAR BIOLOGY OF THE CELL (2015)
ESCRT-III controls nuclear envelope reformation
Yolanda Olmos et al.
NATURE (2015)
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited
Valerija Dobricic et al.
PARKINSONISM & RELATED DISORDERS (2015)
Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons
Samuel S. Pappas et al.
ELIFE (2015)
Torsins: not your typical AAA plus ATPases
April E. Rose et al.
CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY (2015)
Surveillance of Nuclear Pore Complex Assembly by ESCRT-III/Vps4
Brant M. Webster et al.
CELL (2014)
Unraveling Cellular Phenotypes of Novel TorsinA/TOR1A Mutations
Franca Vulinovic et al.
HUMAN MUTATION (2014)
Arresting a Torsin ATPase Reshapes the Endoplasmic Reticulum
April E. Rose et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration
Chun-Chi Liang et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Combined Occurrence of a Novel TOR1A and a THAP1 Mutation in Primary Dystonia
Fu-Bo Cheng et al.
MOVEMENT DISORDERS (2014)
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies
Gulsum Kayman-Kurekci et al.
NEUROMUSCULAR DISORDERS (2014)
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
Imen Dorboz et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Identification of a Novel Human LAP1 Isoform That Is Regulated by Protein Phosphorylation
Mariana Santos et al.
PLOS ONE (2014)
The mechanism of Torsin ATPase activation
Rebecca S. H. Brown et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
How lamin-associated polypeptide 1 (LAP1) activates Torsin
Brian A. Sosa et al.
ELIFE (2014)
Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study
D. Martino et al.
JOURNAL OF NEUROLOGY (2013)
Regulation of Torsin ATPases by LAP1 and LULL1
Chenguang Zhao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Torsin Mediates Primary Envelopment of Large Ribonucleoprotein Granules at the Nuclear Envelope
Vahbiz Jokhi et al.
CELL REPORTS (2013)
ESCRT-III Governs the Aurora B-Mediated Abscission Checkpoint Through CHMP4C
Jeremy G. Carlton et al.
SCIENCE (2012)
AAA+ Proteases: ATP-Fueled Machines of Protein Destruction
Robert T. Sauer et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 80 (2011)
TorsinA participates in endoplasmic reticulum-associated degradation
Flavia C. Nery et al.
NATURE COMMUNICATIONS (2011)
Cell Cycle-Dependent Differences in Nuclear Pore Complex Assembly in Metazoa
Christine M. Doucet et al.
CELL (2010)
The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro
Alexander J. Burdette et al.
CELL STRESS & CHAPERONES (2010)
Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA
Michael Jungwirth et al.
HUMAN MOLECULAR GENETICS (2010)
The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response
Pan Chen et al.
HUMAN MOLECULAR GENETICS (2010)
Insulin-stimulated Interaction with 14-3-3 Promotes Cytoplasmic Localization of Lipin-1 in Adipocytes
Miklos Peterfy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
A Unique Redox-sensing Sensor II Motif in TorsinA Plays a Critical Role in Nucleotide and Partner Binding
Li Zhu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Defects in nuclear pore assembly lead to activation of an Aurora B-mediated abscission checkpoint
Douglas R. Mackay et al.
JOURNAL OF CELL BIOLOGY (2010)
Live imaging of single nuclear pores reveals unique assembly kinetics and mechanism in interphase
Elisa Dultz et al.
JOURNAL OF CELL BIOLOGY (2010)
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia
Nicole Calakos et al.
JOURNAL OF MEDICAL GENETICS (2010)
A molecular mechanism underlying the neural-specific defect in torsinA mutant mice
Connie E. Kim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Interaction of TorsinA with Its Major Binding Partners Is Impaired by the Dystonia-associated ΔGAG Deletion
Teresa V. Naismith et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
LULL1 Retargets TorsinA to the Nuclear Envelope Revealing an Activity That Is Impaired by the DYT1 Dystonia Mutation
Abigail B. Vander Heyden et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
Walker-A threonine couples nucleotide occupancy with the chaperone activity of the AAA plus ATPase ClpB
Maria Nagy et al.
PROTEIN SCIENCE (2009)
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
B. Zim et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
The torsin-family AAA plus protein OOC-5 contains a critical disulfide adjacent to Sensor-II that couples redox state to nucleotide binding
Li Zhu et al.
MOLECULAR BIOLOGY OF THE CELL (2008)
Human ESCRT and ALIX proteins interact with proteins of the midbody and function in cytokinesis
Eiji Morita et al.
EMBO JOURNAL (2007)
Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia
Neil J. Risch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns
Jimmy Donkor et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
MEL-28/ELYS is required for the recruitment of nucleoporins to chromatin and postmitotic nuclear pore complex assembly
Cerstin Franz et al.
EMBO REPORTS (2007)
Insulin controls subcellular localization and multisite phosphorylation of the phosphatidic acid phosphatase, lipin 1
Thurl E. Harris et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Nuclear pores form de novo from both sides of the nuclear envelope
MA D'Angelo et al.
SCIENCE (2006)
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier
N Kock et al.
HUMAN MOLECULAR GENETICS (2006)
The Saccharomyces cerevisiae lipin homolog is a Mg2+-dependent phosphatidate phosphatase enzyme
GS Han et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope
RE Goodchild et al.
NEURON (2005)
AAA+ proteins: Have engine, will work
PI Hanson et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2005)
The AAA plus protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
RE Goodchild et al.
JOURNAL OF CELL BIOLOGY (2005)
Evolutionary history and higher order classification of AAA plus ATPases
LM Iyer et al.
JOURNAL OF STRUCTURAL BIOLOGY (2004)
Role of the processing pore of the ClpX AAA+ ATPase in the recognition and engagement of specific protein substrates
SM Siddiqui et al.
GENES & DEVELOPMENT (2004)
Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
RE Goodchild et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Substrate recognition by the AAA plus chaperone ClpB
C Schlieker et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2004)
Dynamics of nuclear pore complex organization through the cell cycle
G Rabut et al.
CURRENT OPINION IN CELL BIOLOGY (2004)
TorsinB - perinuclear location and association with torsinA
JW Hewett et al.
JOURNAL OF NEUROCHEMISTRY (2004)
Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins
GA Caldwell et al.
HUMAN MOLECULAR GENETICS (2003)
TorsinA and heat shock proteins act as molecular chaperones:: suppression of α-synuclein aggregation
PJ McLean et al.
JOURNAL OF NEUROCHEMISTRY (2002)
Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
JC Leung et al.
NEUROGENETICS (2001)
Very-low-density lipoprotein assembly and secretion
GS Shelness et al.
CURRENT OPINION IN LIPIDOLOGY (2001)