(Q36851855)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

6

1 reference

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10 January 2020

Jean-Laurent Casanova

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Guillaume Vogt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Jacinta Bustamante

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Ariane Chapgier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Stephanie Boisson-Dupuis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Nizar Mahlaoui

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Laure Gineau

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Christophe Lamaze

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

Geneviève de Saint Basile

10 January 2020

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

11

Jennifer M Puck

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

14

Raymond Mikhael

1 reference

10 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

4

Jacqueline Feinberg

1 reference

10 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

Alexandre Alcaïs

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Claudia Djambas Khayat

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

language of work or name

English

0 references

publication date

14 July 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

Journal of Experimental Medicine

10 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

205

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

1729-1737

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

Gain-of-glycosylation mutations

10 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Glycosylation in cellular mechanisms of health and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Genetic defects in the human glycome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Pharmacological modulation of the heat shock response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

The glycan code of the endoplasmic reticulum: asparagine-linked carbohydrates as protein maturation and quality-control tags

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Pharmacological chaperones: potential treatment for conformational diseases.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Roles of N-linked glycans in the endoplasmic reticulum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Therapeutic approaches to protein-misfolding diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Quality Control and Protein Folding in the Secretory Pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Quality control in the endoplasmic reticulum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Targeting glycosylation as a therapeutic approach

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Genetic dissection of immunity to mycobacteria: the human model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Dissecting glycoprotein quality control in the secretory pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Protein glucosylation and its role in protein folding

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Role of N-oligosaccharide endoplasmic reticulum processing reactions in glycoprotein folding and degradation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Importance of glycosidases in mammalian glycoprotein biosynthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

The tolerability and pharmacokinetics of N-butyl-deoxynojirimycin in patients with advanced HIV disease (ACTG 100). The AIDS Clinical Trials Group (ACTG) of the National Institute of Allergy and Infectious Diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Characterization of glycoproteins and their associated oligosaccharides through the use of endoglycosidases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Glycosidase inhibitors: inhibitors of N‐linked oligosaccharide processing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Tuberculosis in children and adults: two distinct genetic diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

SERCA pump inhibitors do not correct biosynthetic arrest of deltaF508 CFTR in cystic fibrosis

27 June 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20071987

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20071987

BUCAST: another new antiviral

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2525579

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

20 October 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20071987

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20071987

21 January 2018

Identifiers

DOI

10.1084/JEM.20071987

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18625743%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference