(Q33512291)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855093%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism (English)

1 reference

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11 February 2020

4

1 reference

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11 February 2020

1

Helen L Storr

1 reference

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11 February 2020

8

Adrian J L Clark

1 reference

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11 February 2020

author name string

Barbara Kind

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855093%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

David A Parfitt

3

1 reference

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11 February 2020

M Lorenz

5

1 reference

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11 February 2020

Katrin Koehler

6

1 reference

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11 February 2020

Angela Huebner

7

1 reference

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11 February 2020

publication date

23 October 2009

1 reference

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11 February 2020

published in

Molecular Endocrinology

1 reference

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11 February 2020

volume

23

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11 February 2020

issue

12

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11 February 2020

page(s)

2086-2094

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855093%20AND%20SRC:MED&resulttype=core&format=json

Visualizing protein-RNA interactions inside cells by fluorescence resonance energy transfer

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Structure, dynamics and function of nuclear pore complexes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Transgene optimization significantly improves SIN vector titers, gp91phox expression and reconstitution of superoxide production in X-CGD cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Oxidative stress and the pathogenesis of neurodegenerative disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G-protein-coupled receptor and the nucleus.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Characterization of nuclear ferritin and mechanism of translocation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Nuclear ferritin in corneal epithelial cells: tissue-specific nuclear transport and protection from UV-damage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Multiphoton-FLIM quantification of the EGFP-mRFP1 FRET pair for localization of membrane receptor-kinase interactions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Oxidative stress affects the junctional integrity of retinal pigment epithelial cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Triple A syndrome: genotype–phenotype assessment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Proteomic analysis of the mammalian nuclear pore complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Mutant WD-repeat protein in triple-A syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

ACTH resistance syndromes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

The WD repeat: a common architecture for diverse functions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Importance of poly(ADP-ribose) polymerase and its cleavage in apoptosis. Lesson from an uncleavable mutant

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Nuclear ferritin protects DNA from UV damage in corneal epithelial cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Oxidative stress and oxidative DNA damage is characteristic for mixed Alzheimer disease/vascular dementia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Adreno-leukodystrophy: oxidative stress of mice and men.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Ferritoid, a Tissue-specific Nuclear Transport Protein for Ferritin in Corneal Epithelial Cells

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Chromosomal fragility in patients with triple A syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

New insights into the molecular basis of the triple A syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Mouse brains deficient in H-ferritin have normal iron concentration but a protein profile of iron deficiency and increased evidence of oxidative stress

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

High-level transduction and gene expression in hematopoietic repopulating cells using a human immunodeficiency [correction of imunodeficiency] virus type 1-based lentiviral vector containing an internal spleen focus forming virus promoter

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419132

Nuclear translocation of ferritin in corneal epithelial cells

31 October 2018

1 reference

12 December 2020

Regulation, mechanisms and proposed function of ferritin translocation to cell nuclei

1 reference

12 December 2020

FRET between cardiac Na+ channel subunits measured with a confocal microscope and a streak camera

1 reference

12 December 2020

Adrenocorticotropin insensitivity syndromes

1 reference

12 December 2020

Identifiers

DOI

10.1210/ME.2009-0056

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855093%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855093%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

19855093

1 reference