TorsinA in the nuclear envelope. - Wikidata - wikimedia - TriplyDB

TorsinA in the nuclear envelope.

TorsinA in the nuclear envelope.

http://www.wikidata.org/entity/Q34336308

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Early onset torsion dystonia (Oppenheim's dystonia)Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro The dystonia-associated protein torsinA modulates synaptic vesicle recycling Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant Arresting a Torsin ATPase reshapes the endoplasmic reticulum LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton Regulation of Torsin ATPases by LAP1 and LULL1 Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein The nuclear envelope: an intriguing focal point for neurogenetic disease Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope A molecular mechanism underlying the neural-specific defect in torsinA mutant mice Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration A novel function for the Caenorhabditis elegans torsin OOC-5 in nucleoporin localization and nuclear import Chemical enhancement of torsinA function in cell and animal models of torsion dystonia.The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.Torsin ATPases: Harnessing Dynamic Instability for Function.Diseases of the nuclear envelope.Interactions between nuclei and the cytoskeleton are mediated by SUN-KASH nuclear-envelope bridges.Lamin-binding Proteins Animal models of focal dystonia.The nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex component.TorsinA and the torsinA-interacting protein printor have no impact on endoplasmic reticulum stress or protein trafficking in yeast.Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout mice Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response."Laminopathies": a wide spectrum of human diseases.Current Gaps in the Understanding of the Subcellular Distribution of Exogenous and Endogenous Protein TorsinA.Inner nuclear membrane proteins: impact on human disease.A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding.The zebrafish homologue of the human DYT1 dystonia gene is widely expressed in CNS neurons but non-essential for early motor system development Nucleoporins NPP-1, NPP-3, NPP-4, NPP-11 and NPP-13 are required for proper spindle orientation in C. elegans Evaluation of TorsinA as a target for Parkinson disease therapy in mouse models Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.Identification of a novel human LAP1 isoform that is regulated by protein phosphorylation Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction

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TorsinA in the nuclear envelope.

http://www.wikidata.org/entity/Q34336308

description

2004 nî lūn-bûn

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2004 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2004 թվականի մայիսին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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name

TorsinA in the nuclear envelope.

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TorsinA in the nuclear envelope.

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TorsinA in the nuclear envelope.

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TorsinA in the nuclear envelope.

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TorsinA in the nuclear envelope.

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TorsinA in the nuclear envelope.

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TorsinA in the nuclear envelope.

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TorsinA in the nuclear envelope.

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TorsinA in the nuclear envelope.

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Proceedings of the National Academy of Sciences of the United States of America

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TorsinA in the nuclear envelope.

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P2093

John E Heuser

http://www.w3.org/2001/XMLSchema#string

Phyllis I Hanson

http://www.w3.org/2001/XMLSchema#string

Teresa V Naismith

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Xandra O Breakefield

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P2860

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

Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins

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

The Vps4p AAA ATPase regulates membrane association of a Vps protein complex required for normal endosome function

Structural organization of the endoplasmic reticulum.

N-ethylmaleimide-sensitive fusion protein: a trimeric ATPase whose hydrolysis of ATP is required for membrane fusion

Unscrambling an egg: protein disaggregation by AAA+ proteins

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

AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes

Nuclear membrane proteins with potential disease links found by subtractive proteomics

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