Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

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Understanding the natural history of Gaucher disease Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz A Next Generation Multiscale View of Inborn Errors of Metabolism.

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Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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Characterization of variants i ...... pe 1 Gaucher disease severity.

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Characterization of variants i ...... pe 1 Gaucher disease severity.

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Characterization of variants i ...... pe 1 Gaucher disease severity.

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Characterization of variants i ...... pe 1 Gaucher disease severity.

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Characterization of variants i ...... pe 1 Gaucher disease severity.

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Characterization of variants i ...... pe 1 Gaucher disease severity.

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Characterization of variants i ...... ype 1 Gaucher disease severity

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P2093

Alfonso Bolado-Carrancio

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Joaquín Navascués

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José Carlos Rodríguez-Rey

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Miguel Pocoví

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Pilar Alfonso

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Pilar Giraldo

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Pilar Irún

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Pilar Medina

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Silvia Navarro

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Vanesa Andreu

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P2860

The AP-2 family of transcription factors

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

Expression cloning of a cDNA for human ceramide glucosyltransferase that catalyzes the first glycosylation step of glycosphingolipid synthesis

Activator protein 2alpha associates with adenomatous polyposis coli/beta-catenin and Inhibits beta-catenin/T-cell factor transcriptional activity in colorectal cancer cells

Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control

Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data

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

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

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1396-1403

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scholarly article

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10.1002/HUMU.22381

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Francisco España

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2013-08-13T00:00:00Z

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23913449

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Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

about

P2860

P2860

Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

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