TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope. - Wikidata - awgldk - TriplyDB

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

http://www.wikidata.org/entity/Q34826835

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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 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein Breaching the nuclear envelope in development and disease Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope A novel function for the Caenorhabditis elegans torsin OOC-5 in nucleoporin localization and nuclear import Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction The nuclear envelope: form and reformation.Inherited isolated dystonia: clinical genetics and gene function.Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons.Primary dystonia: molecules and mechanisms.Nesprin-3: a versatile connector between the nucleus and the cytoskeleton.Diagnostic issues in childhood and adult dystonia.Emerging common molecular pathways for primary dystonia.TorsinA controls TAN line assembly and the retrograde flow of dorsal perinuclear actin cables during rearward nuclear movement.This bud's for you: mechanisms of cellular nucleocytoplasmic trafficking via nuclear envelope budding.LINCing defective nuclear-cytoskeletal coupling and DYT1 dystonia.Alternative nuclear transport for cellular protein quality control TorsinA regulates the LINC to moving nuclei.Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.

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TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

http://www.wikidata.org/entity/Q34826835

description

2004 nî lūn-bûn

@nan

2004 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի հունիսին 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 and torsion dystonia: Unraveling the architecture of the nuclear envelope.

@ast

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

@en

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

@nl

type

label

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

@ast

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

@en

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

@nl

prefLabel

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

@ast

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

@en

TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

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PNAS.0402441101

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

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TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.

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Larry Gerace

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P2860

UNC-84 localizes to the nuclear envelope and is required for nuclear migration and anchoring during C. elegans development

Nuclear lamins: building blocks of nuclear architecture

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

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

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

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

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

Functional ATPase activity of p97/valosin-containing protein (VCP) is required for the quality control of endoplasmic reticulum in neuronally differentiated mammalian PC12 cells

Nuclear membrane proteins with potential disease links found by subtractive proteomics

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