The dystonia-associated protein torsinA modulates synaptic vesicle recycling (Q24305325)

GOA release 2020-03-11

SNAP associated protein

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synaptic vesicle transport

GOA release 2020-03-11

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GOA release 2020-03-11

Giampietro Schiavo

4

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Lucy Collinson

3

object named as

Lucy M Collinson

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Thomas T. Warner

object named as

Thomas T Warner

5

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author name string

Alessandra Granata

1

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Rose Watson

Journal of Biological Chemistry

2

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language of work or name

English

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publication date

21 March 2008

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published in

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volume

283

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issue

12

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page(s)

7568-79

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cites work

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

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TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.

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

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

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

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Characterization of human torsinA and its dystonia-associated mutant form

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Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum

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Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations

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

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TorsinA in the nuclear envelope

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Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells.

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Brainstem pathology in DYT1 primary torsion dystonia

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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

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Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia.

21 January 2018

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Immunohistochemical localization and distribution of torsinA in normal human and rat brain

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Dopamine release is impaired in a mouse model of DYT1 dystonia

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Snapin: a SNARE-associated protein implicated in synaptic transmission

21 January 2018

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Phosphorylation of Snapin by PKA modulates its interaction with the SNARE complex

21 January 2018

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Reinvestigation of the role of snapin in neurotransmitter release

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Lipid rafts act as specialized domains for tetanus toxin binding and internalization into neurons

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A novel flat-embedding method to prepare ultrathin cryosections from cultured cells in their in situ orientation.

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Exo-endocytotic recycling of synaptic vesicles in developing processes of cultured hippocampal neurons

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Dystonia and the nuclear envelope

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

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Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia

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The role of Snapin in neurosecretion: snapin knock-out mice exhibit impaired calcium-dependent exocytosis of large dense-core vesicles in chromaffin cells

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Vesicle turnover in developing neurons: how to build a presynaptic terminal.

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Monitoring secretory membrane with FM1-43 fluorescence

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Using FM1-43 to study neuropeptide granule dynamics and exocytosis.

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

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Unraveling the mechanisms of synaptotagmin and SNARE function in neurotransmitter release

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Effects of PKA-mediated phosphorylation of Snapin on synaptic transmission in cultured hippocampal neurons.

21 January 2018

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Identification and characterization of Snapin as a ubiquitously expressed SNARE-binding protein that interacts with SNAP23 in non-neuronal cells

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EBAG9 adds a new layer of control on large dense-core vesicle exocytosis via interaction with Snapin

21 January 2018

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Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)

21 January 2018

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Regulated exocytosis contributes to protein kinase C potentiation of vanilloid receptor activity

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A family with hereditary juvenile dystonia-parkinsonism

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Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins

21 January 2018

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Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration

21 January 2018

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Neurotransmitter release - four years of SNARE complexes

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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Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation.

21 January 2018

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Transgenic mouse model of early-onset DYT1 dystonia

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Dopa-responsive dystonia: A clinical and molecular genetic study

21 January 2018

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Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

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