Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q42172548

about

Understanding the natural history of Gaucher disease Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice The development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases.Accumulation of glucosylceramide in the absence of the beta-glucosidase GBA2 alters cytoskeletal dynamics.Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.Emerging therapeutic targets for Gaucher disease.Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2.New Directions in Gaucher Disease.Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase.Diastereomer-specific quantification of bioactive hexosylceramides from bacteria and mammals.Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease.

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P2860

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

http://www.wikidata.org/entity/Q42172548

description

2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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2013年论文

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2013年论文

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name

Functional and genetic charact ...... modifier for Gaucher disease.

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Functional and genetic charact ...... modifier for Gaucher disease.

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type

label

Functional and genetic charact ...... modifier for Gaucher disease.

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Functional and genetic charact ...... modifier for Gaucher disease.

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prefLabel

Functional and genetic charact ...... modifier for Gaucher disease.

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Functional and genetic charact ...... modifier for Gaucher disease.

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1750-1172-8-151

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Orphanet Journal of Rare Diseases

P1476

Functional and genetic charact ...... modifier for Gaucher disease.

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P2093

Ari Zimran

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Claus Niederau

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Deborah Elstein

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Ellen Sidransky

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Konrad Sandhoff

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Maria C Gonzalez

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Mia Horwitz

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Michael Beck

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Mirella Filocamo

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Per Hoffmann

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P2860

Molecular cloning and expression of human bile acid beta-glucosidase

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

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

Haploview: analysis and visualization of LD and haplotype maps

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

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

Gaucher disease: pediatric concerns.

The role of neurogenetics in Gaucher disease.

Global gene expression profile progression in Gaucher disease mouse models

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.

P2888

1750-1172-8-151

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151

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scholarly article

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10.1186/1750-1172-8-151

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1

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8

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Manuel Mattheisen

Markus M Nöthen

Bernadette Breiden

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2013-09-26T00:00:00Z

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257133952

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1025465893

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24070122

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3850879

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