Published in Int J Biochem Cell Biol on November 01, 2005
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01
Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell (2008) 3.11
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms. Proc Natl Acad Sci U S A (2006) 1.96
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. Proc Natl Acad Sci U S A (2007) 1.70
ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease. Chem Biol (2014) 1.52
Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. PLoS Biol (2008) 1.42
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem (2009) 1.39
Detection of ligand binding hot spots on protein surfaces via fragment-based methods: application to DJ-1 and glucocerebrosidase. J Comput Aided Mol Des (2009) 1.30
Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis. Nat Chem Biol (2010) 1.26
Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase. J Med Chem (2012) 1.14
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry. Chembiochem (2008) 1.10
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. Proc Natl Acad Sci U S A (2010) 1.09
Isofagomine induced stabilization of glucocerebrosidase. Chembiochem (2008) 1.09
Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases. J Biol Chem (2011) 1.08
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. Proc Natl Acad Sci U S A (2011) 1.06
Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells. Mol Genet Metab (2009) 1.06
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity. J Med Chem (2011) 1.05
X-ray and biochemical analysis of N370S mutant human acid β-glucosidase. J Biol Chem (2010) 1.04
Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data. J Inherit Metab Dis (2006) 1.01
Gaucher disease and parkinsonism, a molecular link theory. Mol Genet Metab (2010) 0.94
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators. J Inherit Metab Dis (2014) 0.92
FKBP10 depletion enhances glucocerebrosidase proteostasis in Gaucher disease fibroblasts. Chem Biol (2013) 0.92
A Guided Tour of the Structural Biology of Gaucher Disease: Acid-β-Glucosidase and Saposin C. Enzyme Res (2011) 0.88
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant. Mol Genet Metab (2012) 0.86
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism. J Inherit Metab Dis (2010) 0.84
Remodeling the proteostasis network to rescue glucocerebrosidase variants by inhibiting ER-associated degradation and enhancing ER folding. PLoS One (2013) 0.83
Enzyme enhancers for the treatment of Fabry and Pompe disease. Mol Ther (2014) 0.82
Binding of 3,4,5,6-tetrahydroxyazepanes to the acid-β-glucosidase active site: implications for pharmacological chaperone design for Gaucher disease. Biochemistry (2011) 0.79
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. Traffic (2016) 0.78
Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human β-glucocerebrosidase. Plant Signal Behav (2014) 0.75
Stabilization of glucocerebrosidase by active-site occupancy. ACS Chem Biol (2017) 0.75
The diagnosis and treatment of celiac disease. Dtsch Arztebl Int (2013) 2.88
Analgesia and sedation for painful interventions in children and adolescents. Dtsch Arztebl Int (2010) 2.82
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab (2008) 2.60
Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants. ACS Chem Biol (2006) 2.25
Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nat Genet (2013) 2.10
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int (2004) 1.89
Specificity and affinity of natural product cyclopentapeptide inhibitors against A. fumigatus, human, and bacterial chitinases. Chem Biol (2005) 1.80
Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity. Int Immunol (2005) 1.76
Evolution of mammalian chitinase(-like) members of family 18 glycosyl hydrolases. Genetics (2007) 1.73
Structure of human chitotriosidase. Implications for specific inhibitor design and function of mammalian chitinase-like lectins. J Biol Chem (2002) 1.71
Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. Chem Biol (2005) 1.68
A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab (2007) 1.61
Requirement for galectin-3 in apical protein sorting. Curr Biol (2006) 1.55
Inflammatory bowel disease in pediatric patients: Characteristics of newly diagnosed patients from the CEDATA-GPGE Registry. Dtsch Arztebl Int (2015) 1.54
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis (2009) 1.54
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One (2007) 1.54
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2. J Biol Chem (2006) 1.52
Serologic assay based on gliadin-related nonapeptides as a highly sensitive and specific diagnostic aid in celiac disease. Clin Chem (2004) 1.50
Assessing the statistical validity of proteomics based biomarkers. Anal Chim Acta (2007) 1.49
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood (2003) 1.44
Glycosphingolipids--nature, function, and pharmacological modulation. Angew Chem Int Ed Engl (2009) 1.41
Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans. Eur J Nutr (2003) 1.40
The prevalence of celiac disease in children and adolescents in Germany. Dtsch Arztebl Int (2015) 1.39
Endocytotic segregation of gliadin peptide 31-49 in enterocytes. Gut (2009) 1.34
Lipids partition caveolin-1 from ER membranes into lipid droplets: updating the model of lipid droplet biogenesis. FASEB J (2004) 1.32
Marked differences in tissue-specific expression of chitinases in mouse and man. J Histochem Cytochem (2005) 1.29
Development of adamantan-1-yl-methoxy-functionalized 1-deoxynojirimycin derivatives as selective inhibitors of glucosylceramide metabolism in man. J Org Chem (2007) 1.28
Ultrasensitive in situ visualization of active glucocerebrosidase molecules. Nat Chem Biol (2010) 1.26
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis (2011) 1.25
Structural basis for substrate selectivity in human maltase-glucoamylase and sucrase-isomaltase N-terminal domains. J Biol Chem (2010) 1.24
Glycosphingolipids and insulin resistance. Prog Lipid Res (2009) 1.23
Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol (2002) 1.23
Both cleavage products of the mCLCA3 protein are secreted soluble proteins. J Biol Chem (2006) 1.22
Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease. Mol Cell Proteomics (2007) 1.21
Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. J Biol Chem (2003) 1.16
Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Orphanet J Rare Dis (2011) 1.11
Neonatology departments under economic pressure. Dtsch Arztebl Int (2012) 1.11
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis (2005) 1.11
Modulation of glycosphingolipid metabolism significantly improves hepatic insulin sensitivity and reverses hepatic steatosis in mice. Hepatology (2009) 1.09
Activation of the unfolded protein response by Listeria monocytogenes. Cell Microbiol (2012) 1.09
Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease. Ann Neurol (2005) 1.08
Reducing glycosphingolipid content in adipose tissue of obese mice restores insulin sensitivity, adipogenesis and reduces inflammation. PLoS One (2009) 1.08
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. Gastroenterology (2008) 1.07
HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma. Clin Chem (2007) 1.07
The prostate specific membrane antigen regulates the expression of IL-6 and CCL5 in prostate tumour cells by activating the MAPK pathways. PLoS One (2009) 1.06
Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta (2007) 1.05
Antibodies against deamidated gliadin as new and accurate biomarkers of childhood coeliac disease. J Pediatr Gastroenterol Nutr (2009) 1.05
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One (2012) 1.04
Domains in biological membranes. Exp Cell Res (2009) 1.03
Pro-inflammatory delipidizing cytokines reduce adiponectin secretion from human adipocytes without affecting adiponectin oligomerization. J Endocrinol (2007) 1.03
Alpha-kinase 1, a new component in apical protein transport. J Biol Chem (2005) 1.02
Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. Am J Hum Genet (2002) 1.02
Paradoxical increase in TAG and DAG content parallel the insulin sensitizing effect of unilateral DGAT1 overexpression in rat skeletal muscle. PLoS One (2011) 1.01
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum Mutat (2006) 1.01
Multivesicular bodies in intestinal epithelial cells: responsible for MHC class II-restricted antigen processing and origin of exosomes. Immunology (2008) 1.00
The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation. Blood Cells Mol Dis (2010) 0.99
Distinct cytoskeletal tracks direct individual vesicle populations to the apical membrane of epithelial cells. Curr Biol (2003) 0.99
Crystal structures of allosamidin derivatives in complex with human macrophage chitinase. J Biol Chem (2003) 0.99
Annexin II is required for apical transport in polarized epithelial cells. J Biol Chem (2003) 0.99
Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta (2005) 0.96
Immunoglobulin E monitoring and reduction of omalizumab therapy in children and adolescents. Allergy Asthma Proc (2012) 0.94
Complications in hospitalized children with acute gastroenteritis caused by rotavirus: a retrospective analysis. Eur J Pediatr (2011) 0.94
Transcoronary delivery of bone marrow cells to the infarcted murine myocardium: feasibility, cellular kinetics, and improvement in cardiac function. Basic Res Cardiol (2006) 0.94
A novel sorting signal for intracellular localization is present in the S protein of a porcine coronavirus but absent from severe acute respiratory syndrome-associated coronavirus. J Biol Chem (2004) 0.93
Small fiber neuropathy in Fabry disease. Mol Genet Metab (2012) 0.93
Neuropeptide Y (NPY) cleaving enzymes: structural and functional homologues of dipeptidyl peptidase 4. Peptides (2007) 0.93
Binding of Par-4 to the actin cytoskeleton is essential for Par-4/Dlk-mediated apoptosis. Exp Cell Res (2005) 0.93
alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol Dial Transplant (2003) 0.93
Luminal antigens access late endosomes of intestinal epithelial cells enriched in MHC I and MHC II molecules: in vivo study in Crohn's ileitis. Am J Physiol Gastrointest Liver Physiol (2007) 0.92
Novel activity-based probes for broad-spectrum profiling of retaining β-exoglucosidases in situ and in vivo. Angew Chem Int Ed Engl (2012) 0.92
Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease. PLoS One (2011) 0.92
Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands. Nephrol Dial Transplant (2005) 0.90
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. Am J Hematol (2012) 0.90
Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency. Gastroenterology (2009) 0.90
Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. FEBS J (2009) 0.90
Unexpected high digestion rate of cooked starch by the Ct-maltase-glucoamylase small intestine mucosal α-glucosidase subunit. PLoS One (2012) 0.90
Decline in infantile hypertrophic pyloric stenosis in Germany in 2000-2008. Pediatrics (2012) 0.89
Fasting-induced myocardial lipid accumulation in long-chain acyl-CoA dehydrogenase knockout mice is accompanied by impaired left ventricular function. Circ Cardiovasc Imaging (2011) 0.89
Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice. Mol Genet Metab (2012) 0.89
Human acidic mammalian chitinase erroneously known as eosinophil chemotactic cytokine is not the ortholog of mouse YM1. J Immunol (2005) 0.89
Determination of IgG and IgA antibodies against native gliadin is not helpful for the diagnosis of coeliac disease in children up to 2 years old. J Pediatr Gastroenterol Nutr (2012) 0.89
Interferon-gamma mediates antigen trafficking to MHC class II-positive late endosomes of enterocytes. Eur J Immunol (2005) 0.89
Gaucher disease: a model disorder for biomarker discovery. Expert Rev Proteomics (2009) 0.89
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. Gastroenterology (2003) 0.88
Intestinal dipeptidyl peptidase IV is efficiently sorted to the apical membrane through the concerted action of N- and O-glycans as well as association with lipid microdomains. J Biol Chem (2001) 0.88
Vesicular stomatitis virus glycoprotein does not determine the site of virus release in polarized epithelial cells. J Virol (2002) 0.88
The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme. J Biol Chem (2001) 0.88
Restrictive diets are to be avoided. Dtsch Arztebl Int (2014) 0.87
Miglustat-induced intestinal carbohydrate malabsorption is due to the inhibition of α-glucosidases, but not β-galactosidases. J Inherit Metab Dis (2012) 0.87
Starch source influences dietary glucose generation at the mucosal α-glucosidase level. J Biol Chem (2012) 0.87