Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia? (Q39026993)

8 September 2017

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title

Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia? (English)

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8 September 2017

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3

Rose E Goodchild

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8 September 2017

Ana Cascalho

1

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8 September 2017

Julie Jacquemyn

series ordinal

2

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8 September 2017

language of work or name

English

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publication date

2 December 2016

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8 September 2017

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8 September 2017

volume

32

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8 September 2017

issue

3

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8 September 2017

page(s)

371-381

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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

8 September 2017

cites work

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Phenomenology and classification of dystonia: a consensus update

21 January 2018

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Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia.

21 January 2018

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Genetic and clinical features of primary torsion dystonia

21 January 2018

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Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis.

21 January 2018

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DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations

21 January 2018

1 reference

DYT1 mutation in French families with idiopathic torsion dystonia

21 January 2018

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Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia

21 January 2018

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Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism

21 January 2018

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Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier

21 January 2018

1 reference

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations

21 January 2018

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Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.

21 January 2018

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Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia

21 January 2018

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Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia

21 January 2018

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Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

21 January 2018

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Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

21 January 2018

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Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

21 January 2018

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Mutations in DYT1: extension of the phenotypic and mutational spectrum

21 January 2018

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Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A

21 January 2018

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Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models

21 January 2018

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The TOR1A (DYT1) gene family and its role in early onset torsion dystonia

21 January 2018

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Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA

21 January 2018

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dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism

21 January 2018

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Mutations in ooc-5 and ooc-3 disrupt oocyte formation and the reestablishment of asymmetric PAR protein localization in two-cell Caenorhabditis elegans embryos

21 January 2018

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Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

21 January 2018

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AAA proteins: have engine, will work

21 January 2018

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Dystonia-associated forms of torsinA are deficient in ATPase activity

21 January 2018

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Recombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant Delta E-torsinA.

21 January 2018

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Walker-A threonine couples nucleotide occupancy with the chaperone activity of the AAA ATPase ClpB.

21 January 2018

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How lamina-associated polypeptide 1 (LAP1) activates Torsin.

21 January 2018

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The mechanism of Torsin ATPase activation

21 January 2018

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A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding

21 January 2018

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Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion

21 January 2018

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The AAA protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein

21 January 2018

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Regulation of Torsin ATPases by LAP1 and LULL1

21 January 2018

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Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.

21 January 2018

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LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation

21 January 2018

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Access of torsinA to the inner nuclear membrane is activity dependent and regulated in the endoplasmic reticulum

21 January 2018

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The early onset dystonia protein torsinA interacts with kinesin light chain 1

21 January 2018

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Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

21 January 2018

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Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance

21 January 2018

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TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

21 January 2018

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Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies

21 January 2018

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Static retention of the lumenal monotopic membrane protein torsinA in the endoplasmic reticulum

21 January 2018

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TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress

21 January 2018

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The axonal endoplasmic reticulum and protein trafficking: Cellular bootlegging south of the soma

21 January 2018

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Lamins: nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation

21 January 2018

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The LINC and NPC relationship - it's complicated!

21 January 2018

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Lipid partitioning at the nuclear envelope controls membrane biogenesis

21 January 2018

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Spatial regulation of phospholipid synthesis within the nuclear envelope domain of the endoplasmic reticulum

21 January 2018

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The inner nuclear membrane protein LAP1 forms a native complex with B-type lamins and partitions with spindle-associated mitotic vesicles

21 January 2018

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The Torsin Activator LULL1 Is Required for Efficient Growth of Herpes Simplex Virus 1.

21 January 2018

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Arresting a Torsin ATPase reshapes the endoplasmic reticulum

21 January 2018

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

21 January 2018

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TorsinA rescues ER-associated stress and locomotive defects in C. elegans models of ALS.

21 January 2018

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

21 January 2018

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Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant

21 January 2018

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TorsinA participates in endoplasmic reticulum-associated degradation

21 January 2018

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

21 January 2018

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Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells

21 January 2018

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

21 January 2018

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The dystonia-associated protein torsinA modulates synaptic vesicle recycling

21 January 2018

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Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics

21 January 2018

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Torsin mediates primary envelopment of large ribonucleoprotein granules at the nuclear envelope

21 January 2018

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

21 January 2018

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TorsinA in the nuclear envelope

21 January 2018

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TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

21 January 2018

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Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

21 January 2018

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Transient expression of human TorsinA enhances secretion of two functionally distinct proteins in cultured Chinese hamster ovary (CHO) cells

21 January 2018

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Torsins Are Essential Regulators of Cellular Lipid Metabolism.

21 January 2018

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Site-specific Proteolysis Mobilizes TorsinA from the Membrane of the Endoplasmic Reticulum (ER) in Response to ER Stress and B Cell Stimulation

21 January 2018

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Exploring the influence of torsinA expression on protein quality control

21 January 2018

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The torsin-family AAA protein OOC-5 contains a critical disulfide adjacent to Sensor-II that couples redox state to nucleotide binding

21 January 2018

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Coordinate regulation of phospholipid biosynthesis and secretory pathway gene expression in XBP-1(S)-induced endoplasmic reticulum biogenesis.

21 January 2018

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Lipid-dependent regulation of the unfolded protein response

21 January 2018

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Integral membrane proteins Brr6 and Apq12 link assembly of the nuclear pore complex to lipid homeostasis in the endoplasmic reticulum

21 January 2018

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A yeast acetyl coenzyme A carboxylase mutant links very-long-chain fatty acid synthesis to the structure and function of the nuclear membrane-pore complex.

21 January 2018

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A lipid E-MAP identifies Ubx2 as a critical regulator of lipid saturation and lipid bilayer stress

21 January 2018

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Phosphatidic acid phosphohydrolase 1 and 2 regulate phospholipid synthesis at the endoplasmic reticulum in Arabidopsis

21 January 2018

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Enhanced membrane protein expression by engineering increased intracellular membrane production

21 January 2018

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The cellular functions of the yeast lipin homolog PAH1p are dependent on its phosphatidate phosphatase activity

21 January 2018

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Lipins, lipinopathies, and the modulation of cellular lipid storage and signaling

21 January 2018

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Membrane Lipids in Presynaptic Function and Disease

21 January 2018

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Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities.

21 January 2018

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

21 January 2018

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Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors

21 January 2018

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Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

21 January 2018

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Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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TorsinB expression in the developing human brain

21 January 2018

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

21 January 2018

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Anticholinergic drugs rescue synaptic plasticity in DYT1 dystonia: role of M1 muscarinic receptors

21 January 2018

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Regional specificity of synaptic plasticity deficits in a knock-in mouse model of DYT1 dystonia.

21 January 2018

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Cholinergic dysregulation produced by selective inactivation of the dystonia-associated protein torsinA.

21 January 2018

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Striatal cholinergic dysfunction as a unifying theme in the pathophysiology of dystonia

21 January 2018

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Role for Torsin in Lipid Metabolism.

21 January 2018

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

21 January 2018

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Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

21 January 2018

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Structural basis for phospholipid scrambling in the TMEM16 family

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.26880

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8 September 2017

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