相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease
Idit Ron et al.
HUMAN MOLECULAR GENETICS (2010)
Synergistic Signals for Natural Cytotoxicity Are Required to Overcome Inhibition by c-Cbl Ubiquitin Ligase
Hun Sik Kim et al.
IMMUNITY (2010)
Disease severity in sibling pairs with type 1 Gaucher disease
Deborah Elstein et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
RING Domain E3 Ubiquitin Ligases
Raymond J. Deshaies et al.
ANNUAL REVIEW OF BIOCHEMISTRY (2009)
The role of molecular chaperones in human misfolding diseases
Sarah A. Broadley et al.
FEBS LETTERS (2009)
Chemical and biological approaches synergize to ameliorate protein-folding diseases
Ting-Wei Mu et al.
CELL (2008)
Defining the TRiC/CCT interactome links chaperonin function to stabilization of newly made proteins with complex topologies
Alice Y. Yam et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2008)
Comparative proteomic profiles of meningioma subtypes
Hiroaki Okamoto et al.
CANCER RESEARCH (2006)
Analyses of variant acid β-glucosidases -: Effects of Gaucher disease mutations
B Liou et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Chemical chaperones and permissive temperatures alter the cellular locatization of Gaucher disease associated glucocerebrosidase variants
Anu R. Sawkar et al.
ACS CHEMICAL BIOLOGY (2006)
Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain
KO Lee et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease
M Schmitz et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2005)
Immunoquantification of β-glucosidase:: Diagnosis and prediction of severity in Gaucher disease.
M Fuller et al.
CLINICAL CHEMISTRY (2005)
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
I Ron et al.
HUMAN MOLECULAR GENETICS (2005)
Twin pairs showing discordance of phenotype in adult Gaucher's disease
RH Lachmann et al.
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2004)
Gaucher disease: Variability in phenotype among siblings
D Amato et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease
H Dvir et al.
EMBO REPORTS (2003)
The Gaucher registry -: Demographics and disease characteristics of 1698 patients with Gaucher disease
J Charrow et al.
ARCHIVES OF INTERNAL MEDICINE (2000)
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
V Koprivica et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)