Gaucher disease gene GBA functions in immune regulation (Q36056642)

11 August 2017

Gaucher disease gene GBA functions in immune regulation (English)

1 reference

11 August 2017

Glucosidase, beta, acid

1 reference

GOA release 2020-03-11

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Jun Liu

1

1 reference

11 August 2017

Stephanie Halene

2

1 reference

11 August 2017

Mei Yang

3

1 reference

11 August 2017

Jameel Iqbal

4

1 reference

11 August 2017

Ruhua Yang

5

1 reference

11 August 2017

Wajahat Z Mehal

6

1 reference

11 August 2017

Wei-Lien Chuang

7

1 reference

11 August 2017

Dhanpat Jain

8

1 reference

11 August 2017

Tony Yuen

9

1 reference

11 August 2017

Li Sun

10

1 reference

11 August 2017

Mone Zaidi

11

1 reference

11 August 2017

Pramod K Mistry

12

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11 August 2017

language of work or name

English

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publication date

4 June 2012

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11 August 2017

6

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

inferred from page(s)

published in

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11 August 2017

109

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11 August 2017

25

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11 August 2017

10018-10023

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Role of chitin and chitinase/chitinase-like proteins in inflammation, tissue remodeling, and injury.

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Thymic Alterations in GM2 Gangliosidoses Model Mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Critical roles of lysosomal acid lipase in T cell development and function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Principles of bioactive lipid signalling: lessons from sphingolipids

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Immune system irregularities in lysosomal storage disorders.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Effective cell and gene therapy in a murine model of Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

T-cell recognition of glycolipids presented by CD1 proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Trafficking from the bone marrow to the thymus: a prerequisite for thymopoiesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Glycolipid antigen processing for presentation by CD1d molecules.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Thymoma epithelial cells secrete thymic hormone but do not express class II antigens of the major histocompatibility complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Anaerobic osteomyelitis in patients with Gaucher's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Impaired development of Th2 cells in IL-13-deficient mice.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

An autopsy case of fetal Gaucher disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Impaired microbicidal capacity of mononuclear phagocytes from patients with type I Gaucher disease: partial correction by enzyme replacement therapy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Functional analysis of thymic B cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Distinct mechanisms of neonatal tolerance induced by dendritic cells and thymic B cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Requirement of dendritic cells and B cells in the clonal deletion of Mls-reactive T cells in the thymus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Regulatory and pathogenic mechanisms in human autoimmune myasthenia gravis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Promotion of lymphocyte egress into blood and lymph by distinct sources of sphingosine-1-phosphate

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Gaucher disease and cancer incidence: a study from the Gaucher Registry.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

The pathology of Gaucher disease.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3382552

Retracted: EPO Receptor Gain-of-Function Causes Hereditary Polycythemia, Alters CD34+ Cell Differentiation and Increases Circulating Endothelial Precursors

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1200941109

Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features

21 January 2018

1 reference

12 December 2020

Presence of B220 within thymocytes and its expression on the cell surface during apoptosis

1 reference

12 December 2020

Physiologic expression of two superantigens in the BDF1 mouse

1 reference

12 December 2020

Monocyte dysfunction in patients with Gaucher disease: evidence for interference of glucocerebroside with superoxide generation

1 reference

12 December 2020

Ontogeny of thymic NK1.1+ cells

1 reference

12 December 2020

Cytokine mRNA in Gaucher disease

1 reference

12 December 2020

Expression of B220 on activated T cell blasts precedes apoptosis

1 reference

12 December 2020

T Cell Numbers Relate to Bone Involvement in Gaucher Disease

1 reference

12 December 2020

Cytokines in Gaucher's disease

1 reference

12 December 2020

Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model

1 reference

12 December 2020

An alternate pathway for CD4 T cell development: thymocyte-expressed MHC class II selects a distinct T cell population

1 reference

12 December 2020

Increased incidence of cancer in adult Gaucher disease in Western Europe

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1200941109

1 reference

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

22665763

1 reference