(Q44804036)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Pedro Gonzalez-Alegre

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Henry L Paulson

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

1 March 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

published in

Journal of Neuroscience

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

2593-2601

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro

25 December 2019

cites work

1 reference

12 December 2020

A visual screen of a GFP-fusion library identifies a new type of nuclear envelope membrane protein

1 reference

12 December 2020

Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix

1 reference

12 December 2020

Analysis of the role of heat shock protein (Hsp) molecular chaperones in polyglutamine disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Formation of intranuclear crystalloids and proliferation of the smooth endoplasmic reticulum in schwann cells induced by tellurium treatment: association with overexpression of HMG CoA reductase and HMG CoA synthase mRNA

1 reference

12 December 2020

Live fluorescence imaging reveals early recruitment of emerin, LBR, RanBP2, and Nup153 to reforming functional nuclear envelopes

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence that the peptidylprolyl isomerase domain of the hsp90-binding immunophilin FKBP52 is involved in both dynein interaction and glucocorticoid receptor movement to the nucleus

1 reference

12 December 2020

Cellular distribution of torsin A and torsin B in normal human brain

1 reference

12 December 2020

A novel quality control compartment derived from the endoplasmic reticulum

1 reference

12 December 2020

TorsinA: movement at many levels

1 reference

12 December 2020

The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily

1 reference

12 December 2020

Immunocytochemical characterization of torsin proteins in mouse brain

1 reference

12 December 2020

Inner nuclear membrane proteins: functions and targeting

1 reference

12 December 2020

TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia

1 reference

12 December 2020

Signalling takes control of nucleo-cytoplasmic trafficking. Workshop on signal-regulated nuclear transport

1 reference

12 December 2020

Life at the edge: the nuclear envelope and human disease

1 reference

12 December 2020

Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study

1 reference

12 December 2020

Structural organization of the endoplasmic reticulum

1 reference

12 December 2020

Proteins of the PDI family: unpredicted non-ER locations and functions

1 reference

12 December 2020

Lamins: building blocks or regulators of gene expression?

1 reference

12 December 2020

TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation

1 reference

12 December 2020

N-terminal truncation of the dopamine transporter abolishes phorbol ester- and substance P receptor-stimulated phosphorylation without impairing transporter internalization.

1 reference

12 December 2020

The coxsackie B virus and adenovirus receptor resides in a distinct membrane microdomain

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Nuclear envelope proteins and neuromuscular diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Lamin a truncation in Hutchinson-Gilford progeria.

1 reference

12 December 2020

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

1 reference

12 December 2020

Characterization of human torsinA and its dystonia-associated mutant form

1 reference

12 December 2020

Toward therapy for DYT1 dystonia: allele-specific silencing of mutant TorsinA

1 reference

12 December 2020

RanGTP mediates nuclear pore complex assembly

1 reference

12 December 2020

Nuclear membrane proteins with potential disease links found by subtractive proteomics

1 reference

12 December 2020

Developments in the molecular biology of DYT1 dystonia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased amounts of HMG-CoA reductase induce "karmellae": a proliferation of stacked membrane pairs surrounding the yeast nucleus

1 reference

12 December 2020

A system for characterizing cellular and molecular events in programmed neuronal cell death.

1 reference

12 December 2020

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

1 reference

12 December 2020

Classification of dystonia

1 reference

12 December 2020

A novel F box protein, NFB42, is highly enriched in neurons and induces growth arrest

1 reference

12 December 2020

10.1523/JNEUROSCI.4461-03.2004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15028751%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

PubMed publication ID

15028751

1 reference