The nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex component. (Q33917603)

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2 February 2020

title

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

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2 February 2020

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2

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4

Rose E Goodchild

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2 February 2020

author name string

Michael T Jungwirth

series ordinal

1

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2 February 2020

Danielle Y Jeong

series ordinal

3

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publication date

31 May 2011

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2 February 2020

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2 February 2020

volume

12

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2 February 2020

page(s)

24

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Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice.

2 February 2020

cites work

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

5 July 2018

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Linear arrays of nuclear envelope proteins harness retrograde actin flow for nuclear movement.

5 July 2018

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

5 July 2018

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

5 July 2018

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SUN1/2 and Syne/Nesprin-1/2 complexes connect centrosome to the nucleus during neurogenesis and neuronal migration in mice

5 July 2018

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Primary dystonia: molecules and mechanisms.

5 July 2018

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Bringing KASH under the SUN: the many faces of nucleo-cytoskeletal connections

5 July 2018

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

5 July 2018

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The monogenic primary dystonias

5 July 2018

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SUN1 and SUN2 play critical but partially redundant roles in anchoring nuclei in skeletal muscle cells in mice

5 July 2018

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

5 July 2018

1 reference

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Abnormal structure-function relationships in hereditary dystonia

5 July 2018

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Role of a conserved pore residue in the formation of a prehydrolytic high substrate affinity state in the AAA+ chaperone ClpA

5 July 2018

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Inner nuclear membrane protein transport is mediated by multiple mechanisms.

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope

5 July 2018

1 reference

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The AAA+ superfamily--a myriad of motions

5 July 2018

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AAA+ ATPases: achieving diversity of function with conserved machinery

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

Functional association of Sun1 with nuclear pore complexes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

Coupling of the nucleus and cytoplasm: role of the LINC complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

AAA+ proteins: have engine, will work

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

TorsinA in the nuclear envelope

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

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

5 July 2018

1 reference

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Characterization of human torsinA and its dystonia-associated mutant form

5 July 2018

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AAA+ proteins and substrate recognition, it all depends on their partner in crime

5 July 2018

1 reference

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Inner nuclear membrane proteins: functions and targeting

5 July 2018

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AAA+ superfamily ATPases: common structure--diverse function

5 July 2018

1 reference

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

cDNA cloning and characterization of lamina-associated polypeptide 1C (LAP1C), an integral protein of the inner nuclear membrane

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164226

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2121-12-24

Pore loops of the AAA+ ClpX machine grip substrates to drive translocation and unfolding

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2121-12-24

Sun1 forms immobile macromolecular assemblies at the nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2121-12-24

SUN1 is required for telomere attachment to nuclear envelope and gametogenesis in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2121-12-24

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2121-12-24

21 January 2018

Identifiers

DOI

10.1186/1471-2121-12-24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21627841%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

2 February 2020

0 references

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2 February 2020

PubMed publication ID

21627841

1 reference