The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome (Q24301071)

regulation of nucleocytoplasmic transport

GOA release 2020-03-11

1 reference

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

GOA release 2020-03-11

Michael J Matunis

2

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author name string

Janet M Cronshaw

series ordinal

1

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language of work or name

English

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publication date

13 May 2003

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published in

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volume

100

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issue

10

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page(s)

5823-7

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describes a project that uses

GM12123

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cites work

Proteomic analysis of the mammalian nuclear pore complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Tpr is localized within the nuclear basket of the pore complex and has a role in nuclear protein export

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Nuclear pore complexes form immobile networks and have a very low turnover in live mammalian cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Disruption of the FG nucleoporin NUP98 causes selective changes in nuclear pore complex stoichiometry and function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Npap60/Nup50 is a tri-stable switch that stimulates importin-alpha:beta-mediated nuclear protein import

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Mutant WD-repeat protein in triple-A syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

The WD repeat: a common architecture for diverse functions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

From nucleoporins to nuclear pore complexes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Nup358, a cytoplasmically exposed nucleoporin with peptide repeats, Ran-GTP binding sites, zinc fingers, a cyclophilin A homologous domain, and a leucine-rich region

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Spectrum of Mutations of the AAAS Gene in Allgrove Syndrome: Lack of Mutations in Six Kindreds with Isolated Resistance to Corticotropin

19 March 2017

1 reference

https://api.crossref.org/works/10.1073/PNAS.1031047100

The nucleoporin Nup98 associates with the intranuclear filamentous protein network of TPR.

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

The nuclear pore complex: mediator of translocation between nucleus and cytoplasm

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=156285

Clinical and genetic characterization of families with triple A (Allgrove) syndrome

27 September 2017

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1031047100

New insights into the molecular basis of the triple A syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1031047100

Adrenocorticotropin insensitivity syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1031047100

Achalasia, alacrima, adrenal insufficiency, and autonomic dysfunction: double A, triple A, or quaternary A syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1031047100

The expression of nuclear lamins in human liver: an immunohistochemical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1031047100

release_qxlzvjpqrjbbzifoiyzttg3bue

21 January 2018

Identifiers

DOI

10.1073/PNAS.1031047100

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ADS bibcode

2003PNAS..100.5823C

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Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qxlzvjpqrjbbzifoiyzttg3bue