Published in EMBO J on December 15, 1993
mu1A-adaptin-deficient mice: lethality, loss of AP-1 binding and rerouting of mannose 6-phosphate receptors. EMBO J (2000) 4.06
Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice. Proc Natl Acad Sci U S A (1998) 3.60
Role of cathepsin B in intracellular trypsinogen activation and the onset of acute pancreatitis. J Clin Invest (2000) 3.47
Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells. EMBO J (1995) 2.38
Role of LAMP-2 in lysosome biogenesis and autophagy. Mol Biol Cell (2002) 2.25
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci U S A (1996) 1.44
Deletion of the SNARE vti1b in mice results in the loss of a single SNARE partner, syntaxin 8. Mol Cell Biol (2003) 1.38
Neither type of mannose 6-phosphate receptor is sufficient for targeting of lysosomal enzymes along intracellular routes. J Cell Biol (1996) 1.36
Differential sorting of lysosomal enzymes in mannose 6-phosphate receptor-deficient fibroblasts. EMBO J (1994) 1.35
The trans-Golgi network accessory protein p56 promotes long-range movement of GGA/clathrin-containing transport carriers and lysosomal enzyme sorting. Mol Biol Cell (2007) 1.15
Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI. Proc Natl Acad Sci U S A (1996) 1.10
Tissue-specific inactivation of murine M6P/IGF2R. Am J Pathol (2003) 1.01
Animal models of lysosomal disease: an overview. J Inherit Metab Dis (1998) 0.85
Sulfatase activities towards the regulation of cell metabolism and signaling in mammals. Cell Mol Life Sci (2009) 0.84
The early vertebrate Danio rerio Mr 46000 mannose-6-phosphate receptor: biochemical and functional characterisation. Dev Genes Evol (2005) 0.84
Class IA phosphatidylinositol 3-kinase p110α regulates phagosome maturation. PLoS One (2012) 0.81
Glucosidase II and MRH-domain containing proteins in the secretory pathway. Curr Protein Pept Sci (2015) 0.80
Role of cation independent mannose 6-phosphate receptor protein in sorting and intracellular trafficking of lysosomal enzymes in chicken embryonic fibroblast (CEF) cells. Glycoconj J (2009) 0.79
SCYL2 Protects CA3 Pyramidal Neurons from Excitotoxicity during Functional Maturation of the Mouse Hippocampus. J Neurosci (2015) 0.78
Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell (1987) 20.47
Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes. Nature (1988) 20.36
The biogenesis of lysosomes. Annu Rev Cell Biol (1989) 10.73
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature (1987) 10.32
Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors. Annu Rev Biochem (1992) 5.64
Lysosomal enzymes and their receptors. Annu Rev Biochem (1986) 5.09
Insulin-like growth factor II receptor as a multifunctional binding protein. Nature (1987) 3.52
The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus. Nature (1991) 3.48
Identification and characterization of cells deficient in the mannose 6-phosphate receptor: evidence for an alternate pathway for lysosomal enzyme targeting. Proc Natl Acad Sci U S A (1983) 2.67
Mr 46,000 mannose 6-phosphate specific receptor: its role in targeting of lysosomal enzymes. EMBO J (1987) 1.81
Quantitation of Mr 46000 and Mr 300000 mannose 6-phosphate receptors in human cells and tissues. Biochem Int (1991) 1.33
Mannose 6-phosphate receptor dependent secretion of lysosomal enzymes. EMBO J (1990) 1.27
The overexpressed human 46-kDa mannose 6-phosphate receptor mediates endocytosis and sorting of beta-glucuronidase. Proc Natl Acad Sci U S A (1990) 1.26
Cloning, sequencing, and functional characterization of the murine 46-kDa mannose 6-phosphate receptor. J Biol Chem (1991) 1.11
Rescue of the T-associated maternal effect in mice carrying null mutations in Igf-2 and Igf2r, two reciprocally imprinted genes. Development (1993) 1.11
Synthesis, transport and processing of cathepsin C in Morris hepatoma 7777 cells and rat hepatocytes. Eur J Biochem (1985) 1.05
Expression of the two mannose 6-phosphate receptors is spatially and temporally different during mouse embryogenesis. Development (1992) 0.98
Gene and pseudogene of the mouse cation-dependent mannose 6-phosphate receptor. Genomic organization, expression, and chromosomal localization. J Biol Chem (1992) 0.92
A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain. Nature (1999) 10.36
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature (1998) 7.43
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature (2000) 6.34
Lysosomal enzymes and their receptors. Annu Rev Biochem (1986) 5.09
mu1A-adaptin-deficient mice: lethality, loss of AP-1 binding and rerouting of mannose 6-phosphate receptors. EMBO J (2000) 4.06
Cathepsin L: critical role in Ii degradation and CD4 T cell selection in the thymus. Science (1998) 3.98
Intracellular receptor sorting during endocytosis: comparative immunoelectron microscopy of multiple receptors in rat liver. Cell (1984) 3.96
Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet (2000) 3.92
Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice. Proc Natl Acad Sci U S A (1998) 3.60
Cathepsin B contributes to TNF-alpha-mediated hepatocyte apoptosis by promoting mitochondrial release of cytochrome c. J Clin Invest (2000) 3.58
Role of cathepsin B in intracellular trypsinogen activation and the onset of acute pancreatitis. J Clin Invest (2000) 3.47
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest (1998) 3.32
Possible pathways for lysosomal enzyme delivery. J Cell Biol (1985) 3.25
The sortilin cytoplasmic tail conveys Golgi-endosome transport and binds the VHS domain of the GGA2 sorting protein. EMBO J (2001) 3.13
Comparison of outcomes of unrelated bone marrow and umbilical cord blood transplants in children with acute leukemia. Blood (2001) 2.99
Noggin is a mesenchymally derived stimulator of hair-follicle induction. Nat Cell Biol (1999) 2.99
Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Proc Natl Acad Sci U S A (1999) 2.82
The interleukin (IL) 2 receptor beta chain is shared by IL-2 and a cytokine, provisionally designated IL-T, that stimulates T-cell proliferation and the induction of lymphokine-activated killer cells. Proc Natl Acad Sci U S A (1994) 2.79
Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation. Proc Natl Acad Sci U S A (1998) 2.75
Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med (1991) 2.69
Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis. Nature (1998) 2.56
Cloning and expression of human arylsulfatase A. J Biol Chem (1989) 2.55
Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts. Biochem Biophys Res Commun (1981) 2.53
A lymphokine, provisionally designated interleukin T and produced by a human adult T-cell leukemia line, stimulates T-cell proliferation and the induction of lymphokine-activated killer cells. Proc Natl Acad Sci U S A (1994) 2.51
Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. Proc Natl Acad Sci U S A (1989) 2.47
Transmission of Ebola virus (Zaire strain) to uninfected control monkeys in a biocontainment laboratory. Lancet (1996) 2.45
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell (1995) 2.38
Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells. EMBO J (1995) 2.38
Biosynthesis and transport of cathepsin D in cultured human fibroblasts. J Cell Biol (1983) 2.29
Differences in the endosomal distributions of the two mannose 6-phosphate receptors. J Cell Biol (1993) 2.25
Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. J Neurosci (2000) 2.21
The overactive bladder in childhood: long-term results with conservative management. J Urol (2000) 2.14
Antibody to mannose 6-phosphate specific receptor induces receptor deficiency in human fibroblasts. EMBO J (1984) 2.11
A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. EMBO J (1998) 2.09
Cathepsin L deficiency as molecular defect of furless: hyperproliferation of keratinocytes and pertubation of hair follicle cycling. FASEB J (2000) 2.09
Structure of the arylsulfatase A gene. Eur J Biochem (1990) 2.07
Lysosomal acid phosphatase is transported to lysosomes via the cell surface. EMBO J (1989) 2.04
Allogeneic and autologous transplantation for haematological diseases, solid tumours and immune disorders: current practice in Europe 2009. Bone Marrow Transplant (2009) 2.00
Human lysosomal acid phosphatase is transported as a transmembrane protein to lysosomes in transfected baby hamster kidney cells. EMBO J (1988) 1.99
Synthesis of phosphorylated recognition marker in lysosomal enzymes is located in the cis part of Golgi apparatus. J Biol Chem (1982) 1.98
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet (2000) 1.98
The EBMT activity survey: 1990-2010. Bone Marrow Transplant (2012) 1.96
Quantitative aspects of pinocytosis and the intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblasts. J Clin Invest (1974) 1.92
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet (1981) 1.84
Defibrotide in the treatment of children with veno-occlusive disease (VOD): a retrospective multicentre study demonstrates therapeutic efficacy upon early intervention. Bone Marrow Transplant (2004) 1.84
Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch. J Biol Chem (1999) 1.82
Human alpha-N-acetylglucosaminidase. 1. Purification and properties. Eur J Biochem (1977) 1.82
Mr 46,000 mannose 6-phosphate specific receptor: its role in targeting of lysosomal enzymes. EMBO J (1987) 1.81
Deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients. Biochem Biophys Res Commun (1982) 1.78
The disintegrins ADAM10 and TACE contribute to the constitutive and phorbol ester-regulated normal cleavage of the cellular prion protein. J Biol Chem (2001) 1.76
Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant (2000) 1.75
Phosphorylated oligosaccharides in lysosomal enzymes: identification of alpha-N-acetylglucosamine(1)phospho(6)mannose diester groups. Proc Natl Acad Sci U S A (1980) 1.73
In vitro binding of plasma membrane-coated vesicle adaptors to the cytoplasmic domain of lysosomal acid phosphatase. J Biol Chem (1993) 1.72
The essential tyrosine of the internalization signal in lysosomal acid phosphatase is part of a beta turn. Cell (1991) 1.72
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. Proc Natl Acad Sci U S A (1983) 1.71
Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B. J Biol Chem (1990) 1.69
Subcellular location of two enzymes involved in the synthesis of phosphorylated recognition markers in lysosomal enzymes. J Biol Chem (1981) 1.68
An alternative hypothesis of cellular transport of lysosomal enzymes in fibroblasts. Effect of inhibitors of lysosomal enzyme endocytosis on intra- and extra-cellular lysosomal enzyme activities. Biochem J (1978) 1.67
Isolation and characterization of phosphorylated oligosaccharides from alpha-N-acetylglucosaminidase that are recognized by cell-surface receptors. Eur J Biochem (1979) 1.67
Disruption of the cathepsin K gene reduces atherosclerosis progression and induces plaque fibrosis but accelerates macrophage foam cell formation. Circulation (2005) 1.66
Early embryonic death of mice deficient in gamma-adaptin. J Biol Chem (1999) 1.64
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet (2001) 1.62
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr Opin Hematol (1999) 1.59
Congenital disorder of glycosylation-Ic: case report and genetic defect. Neuropediatrics (2000) 1.58
The cytoplasmic tail of lysosomal acid phosphatase contains overlapping but distinct signals for basolateral sorting and rapid internalization in polarized MDCK cells. EMBO J (1993) 1.57
Cathepsin D targeted by acid sphingomyelinase-derived ceramide. EMBO J (1999) 1.56
High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy. Am J Hum Genet (1993) 1.55
Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases. Exp Hematol (1999) 1.55
Proteases involved in MHC class II antigen presentation. Immunol Rev (1999) 1.54
Is movement of mannose 6-phosphate-specific receptor triggered by binding of lysosomal enzymes? J Cell Biol (1987) 1.54
Atmospheric detection of water dimers via near-infrared absorption. Science (2003) 1.52
Carbohydrate-free carboxypeptidase Y is transferred into the lysosome-like yeast vacuole. Biochem Biophys Res Commun (1982) 1.49
1.3 A structure of arylsulfatase from Pseudomonas aeruginosa establishes the catalytic mechanism of sulfate ester cleavage in the sulfatase family. Structure (2001) 1.49
Functional expression of human cathepsin S in Saccharomyces cerevisiae. Purification and characterization of the recombinant enzyme. J Biol Chem (1993) 1.49
Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis. Biochemistry (1998) 1.48
Lysosomal enzyme precursors in human fibroblasts. Activation of cathepsin D precursor in vitro and activity of beta-hexosaminidase A precursor towards ganglioside GM2. Eur J Biochem (1982) 1.48
Internalization of blocking antibodies against mannose-6-phosphate specific receptors. EMBO J (1985) 1.48
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. N Engl J Med (1998) 1.47
Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases. Bone Marrow Transplant (2003) 1.47