Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. - Wikidata - awgldk - TriplyDB

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

http://www.wikidata.org/entity/Q37687674

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Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments Unexpected macrophage-independent dyserythropoiesis in Gaucher disease.Expression and crystallization of a bacterial glycoside hydrolase family 116 β-glucosidase from Thermoanaerobacterium xylanolyticum Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2).Molecular mechanism for sphingosine-induced Pseudomonas ceramidase expression through the transcriptional regulator SphR.Emerging therapeutic targets for Gaucher disease.Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.Glucosylsphingosine promotes α-synuclein pathology in mutant GBA-associated Parkinson's disease.Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2.Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.New Directions in Gaucher Disease.Gaucher disease: Progress and ongoing challenges.Concise Review: Induced Pluripotent Stem Cell Research in the Era of Precision Medicine.Delineating pathological pathways in a chemically induced mouse model of Gaucher disease.Mechanisms of Gaucher disease pathogenesis Glucosylsphingosine is a key biomarker of Gaucher disease.The Enigmatic Role of GBA2 in Controlling Locomotor Function.Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease.Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types

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Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

http://www.wikidata.org/entity/Q37687674

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

@tr

scientific article published on 17 March 2014

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

@da

vědecký článek

@cs

name

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

@en

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

@nl

type

label

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

@en

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

@nl

prefLabel

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

@en

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

@nl

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PNAS.1400768111

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

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Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

@en

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Agnes Stachnik

http://www.w3.org/2001/XMLSchema#string

Albert Mennone

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Dhanpat Jain

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James L Boyer

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Jianhua Li

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Joan Keutzer

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Jun Liu

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Kate Zhang

http://www.w3.org/2001/XMLSchema#string

Li Sun

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Maria I New

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P2860

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Gaucher disease and other storage disorders

FSH directly regulates bone mass

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

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

Gaucher disease: insights from a rare Mendelian disorder.

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

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.

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4934-4939

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scholarly article

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10.1073/PNAS.1400768111

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13

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111

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2014-03-17T00:00:00Z

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260876694

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24639522

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3977292

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