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Deficiency of mannose 6-phosphate receptors and lysosomal storage: a morphometric analysis of hepatocytes of neonatal mice
- Published in:
- Cell Biology International, 2003, v. 27, n. 11, p. 897, doi. 10.1016/j.cellbi.2003.07.001
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- Article
µ1A-adaptin-deficient mice: lethality, loss of AP-1 binding and rerouting of mannose 6-phosphate receptors.
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- EMBO Journal, 2000, v. 19, n. 10, p. 2193, doi. 10.1093/emboj/19.10.2193
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- Article
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man<sub>5</sub> GlcNAc<sub>2</sub>-PP-dolichyl mannosyltransferase.
- Published in:
- EMBO Journal, 1999, v. 18, n. 23, p. 6816, doi. 10.1093/emboj/18.23.6816
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- Publication type:
- Article
Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases.
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- EMBO Journal, 1999, v. 18, n. 8, p. 2084, doi. 10.1093/emboj/18.8.2084
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- Publication type:
- Article
A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.
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- EMBO Journal, 1998, v. 17, n. 5, p. 1304, doi. 10.1093/emboj/17.5.1304
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- Article
The polarized epithelia-specific µ1B-adaptin complements µ1A-deficiency in fibroblasts.
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- 2002
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- Publication type:
- Report
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
- Published in:
- Nature Genetics, 2001, v. 28, n. 1, p. 73, doi. 10.1038/ng0501-73
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- Publication type:
- Article
Expression of mannose 6-phosphate receptors in chicken.
- Published in:
- Developmental Dynamics, 1996, v. 207, n. 1, p. 11, doi. 10.1002/(SICI)1097-0177(199609)207:1<11::AID-AJA2>3.0.CO;2-Z
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- Publication type:
- Article
Prenatal diagnosis of morquio's disease type a ( n-acetylgalactosamine 6-sulphate sulphatase deficiency).
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- Prenatal Diagnosis, 1982, v. 2, n. 1, p. 67, doi. 10.1002/pd.1970020111
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- Publication type:
- Article
Phosphorylation of the AP2 μ subunit by AAK1 mediates high affinity binding to membrane protein sorting signals.
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- Journal of Cell Biology, 2002, v. 156, n. 5, p. 791, doi. 10.1083/jcb.200111068
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- Publication type:
- Article
Identification of formylglycine in sulfatases by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
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- Journal of Mass Spectrometry, 2003, v. 38, n. 1, p. 80, doi. 10.1002/jms.404
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- Publication type:
- Article
Identification of novel lysosomal matrix proteins by proteome analysis.
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- Proteomics, 2005, v. 5, n. 15, p. 3966, doi. 10.1002/pmic.200401247
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- Publication type:
- Article
The early vertebrate Danio rerio Mr 46000 mannose-6-phosphate receptor: biochemical and functional characterisation.
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- Development Genes & Evolution, 2006, v. 216, n. 3, p. 133, doi. 10.1007/s00427-005-0043-6
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- Publication type:
- Article
Abnormal synthesis of mannose 1‐phosphate derived carbohydrates in carbohydrate‐deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.
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- Glycobiology, 1998, v. 8, n. 2, p. 165, doi. 10.1093/glycob/8.2.165
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- Publication type:
- Article
Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human α-Mannosidosis.
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- Journal of Neuroscience, 2005, v. 25, n. 28, p. 6539, doi. 10.1523/JNEUROSCI.0283-05.2005
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- Publication type:
- Article
A novel protein modification generating an aldehyde group in sulfatases: Its role in catalysis...
- Published in:
- BioEssays, 1998, v. 20, n. 6, p. 505, doi. 10.1002/(SICI)1521-1878(199806)20:6<505::AID-BIES9>3.0.CO;2-K
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- Publication type:
- Article
Differential involvement of the extracellular 6-O-endosulfatases Sulf1 and Sulf2 in brain development and neuronal and behavioural plasticity.
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- Journal of Cellular & Molecular Medicine, 2009, v. 13, n. 11/12, p. 4505, doi. 10.1111/j.1582-4934.2008.00558.x
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- Publication type:
- Article
Paralog of the formylglycine-generating enzyme – retention in the endoplasmic reticulum by canonical and noncanonical signals.
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- FEBS Journal, 2008, v. 275, n. 6, p. 1118, doi. 10.1111/j.1742-4658.2008.06271.x
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- Publication type:
- Article
AP-1 and AP-3 Mediate Sorting of Melanosomal and Lysosomal Membrane Proteins into Distinct Post-Golgi Trafficking Pathways.
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- Traffic, 2008, v. 9, n. 7, p. 1157, doi. 10.1111/j.1600-0854.2008.00745.x
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- Publication type:
- Article
The Dileucine Motif Within the Tail of MPR46 is Required for Sorting of the Receptor in Endosomes.
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- Traffic, 2000, v. 1, n. 8, p. 631, doi. 10.1034/j.1600-0854.2000.010807.x
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- Publication type:
- Article
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice.
- Published in:
- Nature, 2000, v. 406, n. 6798, p. 902, doi. 10.1038/35022595
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- Publication type:
- Article
Mouse Cathepsin D Gene: Molecular Organization, Characterization of the Promoter, and Chromosomal Localization.
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- DNA & Cell Biology, 1994, v. 13, n. 4, p. 419, doi. 10.1089/dna.1994.13.419
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- Publication type:
- Article
Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.
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- Glycoconjugate Journal, 1998, v. 15, n. 5, p. 499, doi. 10.1023/A:1006939104442
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- Publication type:
- Article
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 205, doi. 10.1002/humu.9515
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- Publication type:
- Article
Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 1979, doi. 10.1093/hmg/ddh220
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- Publication type:
- Article
LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice.
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- Human Molecular Genetics, 2003, v. 12, n. 6, p. 631, doi. 10.1093/hmg/ddg062
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- Publication type:
- Article
The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for α-secretase activity in fibroblasts.
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- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2615, doi. 10.1093/hmg/11.21.2615
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- Article
Handbuch der inneren Medizin, Band 7.
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- Clinical Chemistry & Laboratory Medicine, 1975, v. 13, n. 12, p. 577
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- Publication type:
- Article
Structure–function relationship for lysosomal enzymes.
- Published in:
- Acta Paediatrica, 2007, p. 5, doi. 10.1111/j.1651-2227.2007.00197.x
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- Publication type:
- Article
Molecular characterization of the hypothetical 66.3-kDa protein in mouse: Lysosomal targeting, glycosylation, processing and tissue distribution
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- FEBS Letters, 2006, v. 580, n. 24, p. 5747, doi. 10.1016/j.febslet.2006.09.029
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- Publication type:
- Article
Late-onset metachromatic leukodystrophy: Molecular pathology in two siblings.
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- Annals of Neurology, 1992, v. 31, n. 3, p. 256, doi. 10.1002/ana.410310305
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- Publication type:
- Article
Proteolytic degradation of glutamate decarboxylase mediates disinhibition of hippocampal CA3 pyramidal cells in cathepsin D-deficient mice.
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- Journal of Neurochemistry, 2005, v. 94, n. 3, p. 680, doi. 10.1111/j.1471-4159.2005.03250.x
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- Publication type:
- Article
Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.
- Published in:
- Human Mutation, 1996, v. 7, n. 4, p. 361, doi. 10.1002/(SICI)1098-1004(1996)7:4<361::AID-HUMU12>3.0.CO;2-0
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- Publication type:
- Article
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
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- Human Mutation, 1995, v. 5, n. 2, p. 137, doi. 10.1002/humu.1380050207
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- Publication type:
- Article
Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
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- Human Mutation, 1994, v. 4, n. 2, p. 119, doi. 10.1002/humu.1380040205
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- Publication type:
- Article
An N-acetylgalactosamine-4-sulfatase mutation (ΔG<sub>238</sub>) results in a severe Maroteaux-Lamy phenotype.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 397, doi. 10.1002/humu.1380010509
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- Publication type:
- Article
LAMP-2 deficient mice show depressed cardiac contractile function without significant changes in calcium handling.
- Published in:
- Basic Research in Cardiology, 2006, v. 101, n. 4, p. 281, doi. 10.1007/s00395-006-0591-6
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- Publication type:
- Article
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein.
- Published in:
- Nature, 1998, v. 391, n. 6665, p. 387, doi. 10.1038/34910
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- Publication type:
- Article
Targeted disruption of the lysosomal [alpha]-mannosidase gene results in mice resembling a mild form of human [alpha]-mannosidosis.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1365, doi. 10.1093/hmg/8.8.1365
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- Publication type:
- Article
Sanfilippo syndrome type C: assay for acetyl-CoA: α-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 1, p. 55, doi. 10.1111/j.1399-0004.1981.tb01807.x
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- Publication type:
- Article
Structure of the Human Arylsulfatase B Gene.
- Published in:
- Biological Chemistry, 1993, v. 374, n. 1-6, p. 327
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- Publication type:
- Article
Molecular Cloning of the Mouse Lysosomal Acid Phosphatase.
- Published in:
- Biological Chemistry, 1991, v. 372, n. 1, p. 301
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- Publication type:
- Article
Molecular Cloning of the Mouse 46-kDa Mannose 6-Phosphate Receptor (MPR 46).
- Published in:
- Biological Chemistry, 1991, v. 372, n. 1, p. 297
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- Publication type:
- Article
Targeting of Lysosomal Acid Phosphatase with Altered Carbohydrate.
- Published in:
- Biological Chemistry, 1989, v. 370, n. 1, p. 75, doi. 10.1515/bchm3.1989.370.1.75
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- Publication type:
- Article
High Degree of Homology Between Primary Structure of Human Lysosomal Acid Phosphatase and Human Prostatic Acid Phosphatase.
- Published in:
- Biological Chemistry, 1989, v. 370, n. 1, p. 177, doi. 10.1515/bchm3.1989.370.1.177
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- Publication type:
- Article
Low Temperature Blocks Transport and Sorting of Cathepsin D in Fibroblasts.
- Published in:
- Biological Chemistry, 1988, v. 369, n. 1, p. 441
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- Publication type:
- Article
Synthesis and Stability of Steroid Sulfatase in Fibroblasts from Multiple Sulfatase Deficiency.
- Published in:
- Biological Chemistry, 1988, v. 369, n. 1, p. 297
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- Publication type:
- Article
46-kDa Mannose 6-phosphate-Specific Receptor: Biosynthesis, Processing, Subcellular Location and Topology.
- Published in:
- Biological Chemistry, 1987, v. 368, n. 2, p. 937
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- Publication type:
- Article
46-kDa Mannose 6-phosphate-Specific Receptor: Purification, Subunit Composition, Chemical Modification.
- Published in:
- Biological Chemistry, 1987, v. 368, n. 2, p. 927
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- Publication type:
- Article
Effects of Differentiation-Inducing Agents on Synthesis, Maturation and Secretion of Cathepsin D in U937 and HL-60 Cells.
- Published in:
- Biological Chemistry, 1987, v. 368, n. 1, p. 413
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- Publication type:
- Article