Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
about
Potent and specific inhibition of glycosidases by small artificial binding proteins (affitins)Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson diseaseReduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's diseaseGlucocerebrosidase is shaking up the synucleinopathiesInhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseasesMulticenter analysis of glucocerebrosidase mutations in Parkinson's disease.Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's diseaseThe clinical management of Type 2 Gaucher diseaseGenetics of Parkinson's diseaseThe role of saposin C in 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 diseaseMitochondrial dysfunction associated with glucocerebrosidase deficiencyA mutation in SCARB2 is a modifier in Gaucher diseaseLysosomal integral membrane protein-2: a new player in lysosome-related pathologyAmbroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cellsHigh throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidaseGene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body diseaseA Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsNovel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.Genetic susceptibility in Parkinson's diseaseGBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology.GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseasesOptimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening.Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease.Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher diseaseIdentification and characterization of ambroxol as an enzyme enhancement agent for Gaucher diseaseA multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerabilityIn silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.In silico and functional studies of the regulation of the glucocerebrosidase gene.False-positive results using a Gaucher diagnostic kit--RecTL and N370SExpanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype.Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human β-glucocerebrosidase.Gaucher disease: insights from a rare Mendelian disorder.The link between the GBA gene and parkinsonismRapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher diseaseEmerging insights into the mechanistic link between α-synuclein and glucocerebrosidase in Parkinson's diseaseGaucher disease and parkinsonism, a molecular link theoryDevelopment of inhibitors as research tools for carbohydrate-processing enzymes.
P2860
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P2860
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
@en
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene
@nl
type
label
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
@en
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene
@nl
prefLabel
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
@en
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene
@nl
P2093
P2860
P356
P1433
P1476
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
@en
P2093
C Ronald Scott
Ellen Sidransky
Kathleen S Hruska
Mary E LaMarca
P2860
P304
P356
10.1002/HUMU.20676
P577
2008-05-01T00:00:00Z