(Q24338530)

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Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

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scholarly article

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Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment (English)

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Phosphoglucomutase 3

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GOA release 2020-03-11

protein O-linked glycosylation

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GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

Matthew Biancalana

object named as

Matthew Biancalana

9

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Jonathan J. Lyons

object named as

Jonathan J Lyons

4

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Hudson H. Freeze

object named as

Hudson H Freeze

21

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author name string

Yu Zhang

1

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Xiaomin Yu

2

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Mie Ichikawa

3

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Shrimati Datta

5

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Ian T Lamborn

6

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Huie Jing

7

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Emily S Kim

8

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Lynne A Wolfe

10

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Thomas DiMaggio

11

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Helen F Matthews

12

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Sarah M Kranick

13

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Kelly D Stone

14

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Steven M Holland

15

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Daniel S Reich

16

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Jason D Hughes

17

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Huseyin Mehmet

18

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Joshua McElwee

19

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Alexandra F Freeman

20

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Helen C Su

22

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Joshua D Milner

23

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language of work or name

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publication date

May 2014

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The Journal of Allergy and Clinical Immunology

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133

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5

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1400-9, 1409.e1-5

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Combined immunodeficiency associated with DOCK8 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

19 March 2017

DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

19 March 2017

STAT3 mutations in the hyper-IgE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

19 March 2017

Extreme hyperimmunoglobulinemia E and undue susceptibility to infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

19 March 2017

Job's Syndrome. Recurrent, "cold", staphylococcal abscesses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

19 March 2017

Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

19 March 2017

Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

27 September 2017

Congenital disorders of glycosylation and intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

27 September 2017

Protein O-GlcNAcylation is required for fibroblast growth factor signaling in Drosophila.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

27 September 2017

Cross talk between O-GlcNAcylation and phosphorylation: roles in signaling, transcription, and chronic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

27 September 2017

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

27 September 2017

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

27 September 2017

Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

27 September 2017

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

27 September 2017

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

27 September 2017

Memory B-cells in healthy and antibody-deficient children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

29 November 2018

STAT3Mutation in the Original Patient with Job's Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

29 November 2018

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

29 November 2018

Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016982

29 November 2018

Cortical reflex myoclonus

1 reference

https://pubmed.ncbi.nlm.nih.gov/24589341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of intracellular cytokines by flow cytometry

1 reference

https://api.crossref.org/works/10.1016%2FJ.JACI.2014.02.013

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

1 reference

https://api.crossref.org/works/10.1016%2FJ.JACI.2014.02.013

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of nucleotide sugars from cell lysates by ion-pair solid-phase extraction and reversed-phase high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1016%2FJ.JACI.2014.02.013

7 January 2021

based on heuristic

inferred from DOI database lookup

Simultaneous determination of nucleotide sugars with ion-pair reversed-phase HPLC.

1 reference

https://api.crossref.org/works/10.1016%2FJ.JACI.2014.02.013

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/J.JACI.2014.02.013

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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