Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease (Q42172548)

18 October 2017

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease (English)

1 reference

18 October 2017

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1 reference

18 October 2017

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18 October 2017

Bernadette Breiden

0 references

Eugen Mengel

1 reference

18 October 2017

Yildiz Yildiz

1 reference

18 October 2017

Per Hoffmann

1 reference

18 October 2017

Stefan Vom Dahl

1 reference

18 October 2017

Roger Sandhoff

1 reference

18 October 2017

Claus Niederau

1 reference

18 October 2017

Mia Horwitz

1 reference

18 October 2017

Stefan Karlsson

1 reference

18 October 2017

Mirella Filocamo

1 reference

18 October 2017

Deborah Elstein

1 reference

18 October 2017

Michael Beck

1 reference

18 October 2017

Konrad Sandhoff

1 reference

18 October 2017

Maria C Gonzalez

1 reference

18 October 2017

Ellen Sidransky

1 reference

18 October 2017

Ari Zimran

1 reference

18 October 2017

language of work or name

English

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publication date

26 September 2013

1 reference

Orphanet Journal of Rare Diseases

18 October 2017

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18 October 2017

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18 October 2017

1 reference

13 September 2019

151

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Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Global gene expression profile progression in Gaucher disease mouse models

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Male germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

PLINK: a tool set for whole-genome association and population-based linkage analyses

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Gaucher disease: pathological mechanisms and modern management

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Gaucher disease: complexity in a "simple" disorder

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Haploview: analysis and visualization of LD and haplotype maps

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Gaucher disease: pediatric concerns

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Molecular cloning and expression of human bile acid beta-glucosidase

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

3 Gaucher's disease: clinical features and natural history

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Purification and characterization of a microsomal bile acid beta-glucosidase from human liver

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Gaucher disease. Enzymology, genetics, and treatment

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

The role of neurogenetics in Gaucher disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

High resolution preparative column chromatographic system for gangliosides using DEAE-Sephadex and a new porus silica, Iatrobeads

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Identification of six new Gaucher disease mutations

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Integrity and barrier function of the epidermis critically depend on glucosylceramide synthesis.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Loss of keratin 10 is accompanied by increased sebocyte proliferation and differentiation

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Human Gene Mutation Database (HGMD): 2003 update

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Glucosylceramide modulates membrane traffic along the endocytic pathway

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3850879

INTERSNP: genome-wide interaction analysis guided by a priori information

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-8-151

Separation of gluco- and galactocerebrosides by means of borate thin-layer chromatography

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24070122

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Twin pairs showing discordance of phenotype in adult Gaucher's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24070122

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-151

1 reference

Dimensions Publication ID

18 October 2017

0 references

1 reference

18 October 2017

PubMed publication ID

24070122

1 reference