Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease (Q41886566)

13 October 2017

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease (English)

1 reference

13 October 2017

You-Hai Xu

1

1 reference

13 October 2017

Brian Quinn

series ordinal

2

1 reference

13 October 2017

David Witte

series ordinal

3

1 reference

13 October 2017

Gregory A Grabowski

series ordinal

4

1 reference

13 October 2017

language of work or name

English

0 references

publication date

1 November 2003

1 reference

The American Journal of Pathology

13 October 2017

1 reference

13 October 2017

163

1 reference

13 October 2017

2093-2101

1 reference

13 October 2017

5

1 reference

Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Inducible gene targeting in mice using the Cre/lox system

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Successive isolation and separation of the major lipid fractions including gangliosides from single biological samples.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Brain glucocerebrosidase in Gaucher's disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Fine structure of central nervous system in early infantile Gaucher's disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Infantile Gaucher's disease: electron microscopic and histochemical studies of a cerebral biopsy.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Glyceraldehyde-3-phosphate dehydrogenase mRNA is a major interleukin 2-induced transcript in a cloned T-helper lymphocyte

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Correction of murine mucopolysaccharidosis VII by a human beta-glucuronidase transgene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Chemical differentiation of the Gaucher subtypes.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892407

Gaucher disease--Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects

18 August 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and c

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Mutation analysis of 28 Gaucher disease patients: the Australasian experience

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

THE USE OF SEPHADEX FOR THE REMOVAL OF NONLIPID CONTAMINANTS FROM LIPID EXTRACTS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Abnormal accumulation of galactosylceramide in the kidney of twitcher mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Partial enzyme deficiencies: residual activities and the development of neurological disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

The glucocerebrosidase D409H mutation in Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963566-3

Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14578207

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14578207

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/S0002-9440(10)63566-3

1 reference

release_hnz5vlmepfhdvmyrno2qab56we

13 October 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hnz5vlmepfhdvmyrno2qab56we

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

13 October 2017

1 reference