about
Mesotrypsin and caspase-14 participate in prosaposin processing: potential relevance to epidermal permeability barrier formationMetaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher diseaseCrystal structures of saposins A and CMice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedureNovel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.Crystallization and preliminary characterization of three different crystal forms of human saposin C heterologously expressed in Pichia pastoris.Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradationDNA-based carrier screening in the Ashkenazi Jewish population.Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperonesNewborn screening for lysosomal storage disorders in hungary.Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones.Glucosylceramide mimics: highly potent GCase inhibitors and selective pharmacological chaperones for mutations associated with types 1 and 2 Gaucher disease.Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease.Gaucher's disease: diagnosis, treatment, and management.In situ visualization of glucocerebrosidase in human skin tissue: zymography versus activity-based probe labeling.Role of the Lysosomal Membrane Protein, CLN3, in the Regulation of Cathepsin D Activity.Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
P2860
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P2860
description
1994 nî lūn-bûn
@nan
1994 թուականին հրատարակուած գիտական յօդուած
@hyw
1994 թվականին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mutations causing Gaucher disease
@ast
Mutations causing Gaucher disease
@en
Mutations causing Gaucher disease
@nl
type
label
Mutations causing Gaucher disease
@ast
Mutations causing Gaucher disease
@en
Mutations causing Gaucher disease
@nl
prefLabel
Mutations causing Gaucher disease
@ast
Mutations causing Gaucher disease
@en
Mutations causing Gaucher disease
@nl
P356
P1433
P1476
Mutations causing Gaucher disease
@en
P2093
P2860
P356
10.1002/HUMU.1380030102
P407
P577
1994-01-01T00:00:00Z