(Q37162699)

English

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

scientific article published on September 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Golgi apparatus

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Jean-Christophe Roux

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Jean-Pierre Desvignes

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

11

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Laurent Villard

15

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

9

object named as

Mark Lathrop

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Pierre Cacciagli

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Julie Sutera-Sardo

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ana Borges-Correia

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Imen Dorboz

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Catherine Badens

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Marc Delepine

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Pierre Cau

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Nadine Girard

12

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Pierre Sarda

13

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Odile Boespflug-Tanguy

14

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

language of work or name

0 references

publication date

1 September 2013

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

93

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

579-586

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

The unfolded protein response: controlling cell fate decisions under ER stress and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Road to ruin: targeting proteins for degradation in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Protein folding and quality control in the endoplasmic reticulum: Recent lessons from yeast and mammalian cell systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Fis1 and Bap31 bridge the mitochondria-ER interface to establish a platform for apoptosis induction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Emerging new roles of GM130, a cis-Golgi matrix protein, in higher order cell functions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Differences in endoplasmic-reticulum quality control determine the cellular response to disease-associated mutants of proteolipid protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

BAP31 interacts with Sec61 translocons and promotes retrotranslocation of CFTRDeltaF508 via the derlin-1 complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Bap31 is an itinerant protein that moves between the peripheral endoplasmic reticulum (ER) and a juxtanuclear compartment related to ER-associated Degradation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Bap29/31 influences the intracellular traffic of MHC class I molecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Endoplasmic reticulum membrane-sorting protein of lymphocytes (BAP31) is highly expressed in neurons and discrete endocrine cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Proteomics characterization of abundant Golgi membrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Export of cellubrevin from the endoplasmic reticulum is controlled by BAP31

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

6 September 2017

Invited article: an MRI-based approach to the diagnosis of white matter disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

27 June 2018

Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

3 September 2018

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

3 September 2018

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

3 September 2018

Control of cystic fibrosis transmembrane conductance regulator expression by BAP31.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3769969

3 September 2018

BAP31 and BiP are essential for dislocation of SV40 from the endoplasmic reticulum to the cytosol

1 reference

https://pubmed.ncbi.nlm.nih.gov/24011989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2013.07.023

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24011989%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

ResearchGate publication ID

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