(Q30480646)

12 August 2017

Murine models of acute neuronopathic Gaucher disease (English)

1 reference

12 August 2017

Glucosidase, beta, acid

1 reference

GOA release 2020-03-11

1 reference

1 reference

Ida Berglin Enquist

1 reference

12 August 2017

Christophe Lo Bianco

1 reference

12 August 2017

Andreas Ooka

1 reference

12 August 2017

Eva Nilsson

1 reference

12 August 2017

Jan-Eric Månsson

1 reference

12 August 2017

Mats Ehinger

1 reference

12 August 2017

Johan Richter

1 reference

12 August 2017

Roscoe O Brady

1 reference

12 August 2017

Deniz Kirik

1 reference

12 August 2017

Stefan Karlsson

1 reference

12 August 2017

language of work or name

English

0 references

publication date

22 October 2007

1 reference

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

12 August 2017

1 reference

12 August 2017

104

1 reference

12 August 2017

1 reference

12 August 2017

17483-17488

1 reference

The origin and cell lineage of microglia: new concepts

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Onset and progression in inherited ALS determined by motor neurons and microglia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Type 2 Gaucher disease: 15 new cases and review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Essential role for survivin in early brain development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Disruption of neural signal transducer and activator of transcription 3 causes obesity, diabetes, infertility, and thermal dysregulation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

alpha -Synucleinopathy and selective dopaminergic neuron loss in a rat lentiviral-based model of Parkinson's disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Microglia as mediators of inflammatory and degenerative diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Macrophage surface glycoproteins binding to galectin-3 (Mac-2-antigen).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Type 2 and type 3 Gaucher disease: a morphological and biochemical study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Light microscopic and ultrastructural study on CNS lesions in infantile Gaucher's disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

A less costly regimen of alglucerase to treat Gaucher's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077282

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

20 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

Acute infantile Gaucher's disease in identical twins. An account of clinical and neuropathologic observations

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

Neuropathology provides clues to the pathophysiology of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

Hematopoietic origin of microglial and perivascular cells in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

Amyotrophic lateral sclerosis--are microglia killing motor neurons?

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

Beta1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

Minocycline slows disease progression in a mouse model of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

Efficient three-drug cocktail for disease induced by mutant superoxide dismutase

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0708086104

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

21 January 2018

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

12 December 2020

Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources

1 reference

12 December 2020

Gaucher disease: Enzyme therapy in the acute neuronopathic variant

1 reference

12 December 2020

The neuropathology of infantile Gaucher's disease

1 reference

12 December 2020

ALS: life and death in a bad neighborhood

1 reference

12 December 2020

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

1 reference

12 December 2020

Perinatal-lethal Gaucher disease

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0708086104

1 reference

12 August 2017

0 references

1 reference

12 August 2017

PubMed publication ID

17954912

1 reference