Published in Am J Med Genet A on January 01, 2010
Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages. J Biol Chem (2010) 0.86
Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase. J Biol Chem (2010) 0.83
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. PLoS One (2014) 0.80
Single-chain antibody-fragment M6P-1 possesses a mannose 6-phosphate monosaccharide-specific binding pocket that distinguishes N-glycan phosphorylation in a branch-specific manner†. Glycobiology (2015) 0.75
Altered Met Receptor Phosphorylation and LRP1 Mediated Uptake in Cells Lacking Carbohydrate-Dependent Lysosomal Targeting. J Biol Chem (2017) 0.75
Neuronal ceroid lipofuscinoses. Biochim Biophys Acta (2008) 2.29
A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism. Science (2011) 1.98
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med (2005) 1.93
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics (2007) 1.31
Protein kinase a dependent phosphorylation of apical membrane antigen 1 plays an important role in erythrocyte invasion by the malaria parasite. PLoS Pathog (2010) 1.29
Recognition of heptoses and the inner core of bacterial lipopolysaccharides by surfactant protein d. Biochemistry (2007) 1.28
Mannose phosphorylation in health and disease. Eur J Cell Biol (2009) 1.24
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. J Biol Chem (2003) 1.15
Endotoxic activity and chemical structure of lipopolysaccharides from Chlamydia trachomatis serotypes E and L2 and Chlamydophila psittaci 6BC. Eur J Biochem (2003) 1.13
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. Biochim Biophys Acta (2006) 1.09
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta (2013) 1.09
Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. J Biol Chem (2004) 1.04
Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease. Mol Med (2011) 1.04
Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A (2008) 1.03
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. Hum Mutat (2006) 1.01
Antibody WN1 222-5 mimics Toll-like receptor 4 binding in the recognition of LPS. Proc Natl Acad Sci U S A (2012) 0.99
C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes. Traffic (2007) 0.99
Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases. Biol Chem (2009) 0.97
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. EMBO Mol Med (2013) 0.96
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am J Med Genet A (2005) 0.95
A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting. J Biol Chem (2004) 0.94
Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL. J Proteome Res (2013) 0.94
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. Hum Mutat (2009) 0.93
Analysis of cross-reactive and specific anti-carbohydrate antibodies against lipopolysaccharide from Chlamydophila psittaci. Glycobiology (2009) 0.92
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells. J Biol Chem (2011) 0.92
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy (2015) 0.91
Exploration of specificity in germline monoclonal antibody recognition of a range of natural and synthetic epitopes. J Mol Biol (2008) 0.91
Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis. PLoS One (2012) 0.91
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB). Hum Mutat (2014) 0.91
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Hum Mol Genet (2008) 0.91
A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice. Am J Pathol (2010) 0.90
The role of CDR H3 in antibody recognition of a synthetic analog of a lipopolysaccharide antigen. Glycobiology (2009) 0.89
Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma. Biochim Biophys Acta (2009) 0.89
A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells. Biochem J (2003) 0.89
Pseudo-symmetry and twinning in crystals of homologous antibody Fv fragments. Acta Crystallogr D Biol Crystallogr (2008) 0.89
Structural insights into parallel strategies for germline antibody recognition of lipopolysaccharide from Chlamydia. Glycobiology (2011) 0.89
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. Hum Mutat (2010) 0.88
Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis. J Neurochem (2008) 0.87
Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. Mol Membr Biol (2007) 0.87
Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif. J Biol Chem (2012) 0.87
Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. J Neurochem (2007) 0.87
A common NH53K mutation in the combining site of antibodies raised against chlamydial LPS glycoconjugates significantly increases avidity. Biochemistry (2011) 0.87
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. Hum Mutat (2004) 0.87
Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1. Biochim Biophys Acta (2013) 0.86
Adenosine A2A receptor activation stimulates collagen production in sclerodermic dermal fibroblasts either directly and through a cross-talk with the cannabinoid system. J Mol Med (Berl) (2011) 0.86
Mannose 6 dephosphorylation of lysosomal proteins mediated by acid phosphatases Acp2 and Acp5. Mol Cell Biol (2011) 0.86
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat (2008) 0.86
Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages. J Biol Chem (2010) 0.86
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1. Biochim Biophys Acta (2008) 0.86
Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias. Pflugers Arch (2008) 0.85
Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I. Pediatr Res (2006) 0.85
N-glycans and glycosylphosphatidylinositol-anchor act on polarized sorting of mouse PrP(C) in Madin-Darby canine kidney cells. PLoS One (2011) 0.85
Antibodies raised against chlamydial lipopolysaccharide antigens reveal convergence in germline gene usage and differential epitope recognition. Biochemistry (2010) 0.85
Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif. Traffic (2010) 0.84
Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages. Biochem J (2002) 0.84
Decreased intracellular degradation of insulin-like growth factor binding protein-3 in cathepsin L-deficient fibroblasts. FEBS Lett (2002) 0.83
Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues. Biochem J (2003) 0.83
Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase. J Biol Chem (2010) 0.83
Synthesis of a neoglycoconjugate containing a Chlamydophila psittaci-specific branched Kdo trisaccharide epitope. Carbohydr Res (2009) 0.82
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series. J Inherit Metab Dis (2014) 0.82
Alteration of the insulin-like growth factor axis during in vitro differentiation of the human osteosarcoma cell line HOS 58. J Cell Biochem (2007) 0.81
High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons. J Neurosci Res (2011) 0.81
Molecular and structural basis of inner core lipopolysaccharide alterations in Escherichia coli: incorporation of glucuronic acid and phosphoethanolamine in the heptose region. J Biol Chem (2013) 0.81
Apoptotic photoreceptor loss and altered expression of lysosomal proteins in the nclf mouse model of neuronal ceroid lipofuscinosis. Invest Ophthalmol Vis Sci (2013) 0.81
Antiserum against Raoultella terrigena ATCC 33257 identifies a large number of Raoultella and Klebsiella clinical isolates as serotype O12. Innate Immun (2010) 0.81
Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines. Glycobiology (2009) 0.80
Insulin-like growth factor (IGF)-binding protein-1 is highly induced during acute carbon tetrachloride liver injury and potentiates the IGF-I-stimulated activation of rat hepatic stellate cells. Endocrinology (2004) 0.80
Lysosomes. Biochim Biophys Acta (2009) 0.79
Interaction of insulin-like growth factor II (IGF-II) with multiple plasma proteins: high affinity binding of plasminogen to IGF-II and IGF-binding protein-3. J Biol Chem (2005) 0.79
Diversity of human insulin-like growth factor (IGF) binding protein-2 fragments in plasma: primary structure, IGF-binding properties, and disulfide bonding pattern. Biochemistry (2005) 0.79
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. Glycobiology (2004) 0.79
Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice. Ultrastruct Pathol (2013) 0.79
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. Hum Genet (2002) 0.78
The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module. Hum Mol Genet (2012) 0.78
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. JIMD Rep (2015) 0.78
Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells. Biol Chem (2009) 0.78
Isolation and characterization of circulating fragments of the insulin-like growth factor binding protein-3. FEBS Lett (2002) 0.77
Exploring the cross-reactivity of S25-2: complex with a 5,6-dehydro-Kdo disaccharide. Acta Crystallogr Sect F Struct Biol Cryst Commun (2012) 0.77
Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts. Eur J Endocrinol (2004) 0.77
3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3. J Mol Med (Berl) (2007) 0.77
Kdo-(2 --> 8)-Kdo-(2 --> 4)-Kdo but not Kdo-(2 --> 4)-Kdo-(2 --> 4)-Kdo is an acceptor for transfer of L-glycero-alpha-D-manno-heptose by Escherichia coli heptosyltransferase I (WaaC). Innate Immun (2009) 0.77
In vivo processed fragments of IGF binding protein-2 copurified with bioactive IGF-II. Biochem Biophys Res Commun (2003) 0.76
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. Hum Mutat (2004) 0.76
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. Am J Med Genet A (2011) 0.76
Evaluation of butyrate-induced production of a mannose-6-phosphorylated therapeutic enzyme using parallel bioreactors. Biotechnol Appl Biochem (2014) 0.76
In vitro sulfation of N-acetyllactosaminide by soluble recombinant human beta-Gal-3'-sulfotransferase. Carbohydr Res (2006) 0.75