Gaucher disease: insights from a rare Mendelian disorder.
about
Glucocerebrosidase is shaking up the synucleinopathiesRethinking fatigue in Gaucher diseaseThe clinical management of Type 2 Gaucher diseaseImiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapyThe relationship between glucocerebrosidase mutations and Parkinson diseaseA Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsThe development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases.Glucocerebrosidase Deficiency in Drosophila Results in α-Synuclein-Independent Protein Aggregation and Neurodegeneration.Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez DíazDisease models for the development of therapies for lysosomal storage diseases.Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease.Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report.The Spectrum of Neurological Manifestations Associated with Gaucher Disease.The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3pAlterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease.Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation.The dipole potential correlates with lipid raft markers in the plasma membrane of living cells.Dysregulation of the autophagic-lysosomal pathway in Gaucher and Parkinson's disease.Is Parkinson's disease a lysosomal disorder?Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease
P2860
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P2860
Gaucher disease: insights from a rare Mendelian disorder.
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Gaucher disease: insights from a rare Mendelian disorder.
@ast
Gaucher disease: insights from a rare Mendelian disorder.
@en
Gaucher disease: insights from a rare Mendelian disorder.
@nl
type
label
Gaucher disease: insights from a rare Mendelian disorder.
@ast
Gaucher disease: insights from a rare Mendelian disorder.
@en
Gaucher disease: insights from a rare Mendelian disorder.
@nl
prefLabel
Gaucher disease: insights from a rare Mendelian disorder.
@ast
Gaucher disease: insights from a rare Mendelian disorder.
@en
Gaucher disease: insights from a rare Mendelian disorder.
@nl
P2860
P1433
P1476
Gaucher disease: insights from a rare Mendelian disorder.
@en
P2093
Ellen Sidransky
P2860
P304
P577
2012-10-01T00:00:00Z