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The role of glycosylation and phosphorylation in the expression of active human beta-glucuronidase

The Journal of biological chemistry, 1993-06, Vol.268 (16), p.12193-12198

1993

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Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family

The Journal of pediatrics, 1998-04, Vol.132 (4), p.717-720

1998

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The insulin-like growth factor II (IGF-II)/mannose 6-phosphate receptor mediates IGF-II-induced motility in human rhabdomyosarcoma cells

The Journal of biological chemistry, 1992-05, Vol.267 (13), p.9000-9004

1992

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Cloning, sequencing, and functional characterization of the murine 46-kDa mannose 6-phosphate receptor

The Journal of biological chemistry, 1991-06, Vol.266 (16), p.10589-10595

1991

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Phosphomannosyl-enzyme receptors in rat liver. Subcellular distribution and role in intracellular transport of lysosomal enzymes

The Journal of biological chemistry, 1980-10, Vol.255 (20), p.9608-9615

1980

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Identification of carbonic anhydrase XII as the membrane isozyme expressed in the normal human endometrial epithelium

Molecular human reproduction, 2000-01, Vol.6 (1), p.68-74

2000

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DMT1 mediates enhanced intestinal iron absorption in hereditary haemochromatosis

Journal of hepatology, 2001-04, Vol.34, p.20-20

2001

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Cloning and expression of the cDNA of chicken cation-independent mannose-6-phosphate receptor

Proceedings of the National Academy of Sciences - PNAS, 1995-10, Vol.92 (21), p.9762-9766

1995

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Membrane-associated carbonic anhydrase from rat lung. Purification, characterization, tissue distribution, and comparison with carbonic anhydrase IVs of other mammals

The Journal of biological chemistry, 1992-02, Vol.267 (5), p.3308-3311

1992

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Human Carbonic Anhydrase IV: cDNA Cloning, Sequence Comparison, and Expression in COS Cell Membranes

Proceedings of the National Academy of Sciences - PNAS, 1992-02, Vol.89 (4), p.1315-1319

1992

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Human Mitochondrial Carbonic Anhydrase: cDNA Cloning, Expression, Subcellular Localization, and Mapping to Chromosome 16

Proceedings of the National Academy of Sciences - PNAS, 1993-08, Vol.90 (16), p.7623-7627

1993

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Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings

The Journal of biological chemistry, 1994-09, Vol.269 (38), p.23681-23688

1994

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C-terminal processing of human beta-glucuronidase. The propeptide is required for full expression of catalytic activity, intracellular retention, and proper phosphorylation

The Journal of biological chemistry, 1993-10, Vol.268 (30), p.22627-22633

1993

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Membrane-Associated Carbonic Anhydrase from the Crab Gill: Purification, Characterization, and Comparison with Mammalian CAs

Archives of biochemistry and biophysics, 1994-08, Vol.312 (2), p.429-435

1994

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Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

American journal of human genetics, 1993-03, Vol.52 (3), p.517-526

1993

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Genomic Organization of the Human Gene (CAS) and Pseudogene for Mitochondrial Carbonic Anhydrase V and Their Localization to Chromosomes 16q and 16p

Genomics (San Diego, Calif.), 1995-08, Vol.28 (3), p.477-484

1995

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Carbonic anhydrase II deficiency : single-base deletion in Exon 7 is the predominant mutation in Caribbean hispanic patients

American journal of human genetics, 1994-04, Vol.54 (4), p.602-608

1994

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Cloning, Sequencing, and Expression of cDNA for Human β -glucuronidase

Proceedings of the National Academy of Sciences - PNAS, 1987-02, Vol.84 (3), p.685-689

1987

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The Overexpressed Human 46-kDa Mannose 6-Phosphate Receptor Mediates Endocytosis and Sorting of β-Glucuronidase

Proceedings of the National Academy of Sciences - PNAS, 1990-10, Vol.87 (20), p.8036-8040

1990

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The insulin-like growth factor II receptor: A potential growth suppressor gene in colorectal carcinoma cells

Gastroenterology (New York, N.Y. 1943), 1998-04, Vol.114, p.A682-A683

1998

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Genomic Organization and Localization of Gene for Human Carbonic Anhydrase IV to Chromosome 17q

Genomics (San Diego, Calif.), 1993-06, Vol.16 (3), p.678-684

1993

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Carbonic Anhydrase Isozymes IV and II in Urinary Membranes from Carbonic Anhydrase II-Deficient Patients

Proceedings of the National Academy of Sciences - PNAS, 1990-08, Vol.87 (16), p.6073-6076

1990

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Correction of Murine Mucopolysaccharidosis VII by a Human β- Glucuronidase Transgene

Proceedings of the National Academy of Sciences - PNAS, 1990-05, Vol.87 (10), p.3914-3918

1990

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Knockout of the mouse HFE gene produces hemochromatosis

Gastroenterology (New York, N.Y. 1943), 1998-04, Vol.114, p.A1372-A1372

1998

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Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13

Cytogenetic and genome research, 1996, Vol.72 (1), p.53-55

1996

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The role of glycosylation and phosphorylation in the expression of active human beta-glucuronidase

Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family

The insulin-like growth factor II (IGF-II)/mannose 6-phosphate receptor mediates IGF-II-induced motility in human rhabdomyosarcoma cells

Cloning, sequencing, and functional characterization of the murine 46-kDa mannose 6-phosphate receptor

Phosphomannosyl-enzyme receptors in rat liver. Subcellular distribution and role in intracellular transport of lysosomal enzymes

Identification of carbonic anhydrase XII as the membrane isozyme expressed in the normal human endometrial epithelium

DMT1 mediates enhanced intestinal iron absorption in hereditary haemochromatosis

Cloning and expression of the cDNA of chicken cation-independent mannose-6-phosphate receptor

Membrane-associated carbonic anhydrase from rat lung. Purification, characterization, tissue distribution, and comparison with carbonic anhydrase IVs of other mammals

Human Carbonic Anhydrase IV: cDNA Cloning, Sequence Comparison, and Expression in COS Cell Membranes

Human Mitochondrial Carbonic Anhydrase: cDNA Cloning, Expression, Subcellular Localization, and Mapping to Chromosome 16

Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings

C-terminal processing of human beta-glucuronidase. The propeptide is required for full expression of catalytic activity, intracellular retention, and proper phosphorylation

Membrane-Associated Carbonic Anhydrase from the Crab Gill: Purification, Characterization, and Comparison with Mammalian CAs

Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

Genomic Organization of the Human Gene (CAS) and Pseudogene for Mitochondrial Carbonic Anhydrase V and Their Localization to Chromosomes 16q and 16p

Carbonic anhydrase II deficiency : single-base deletion in Exon 7 is the predominant mutation in Caribbean hispanic patients

Cloning, Sequencing, and Expression of cDNA for Human β -glucuronidase

The Overexpressed Human 46-kDa Mannose 6-Phosphate Receptor Mediates Endocytosis and Sorting of β-Glucuronidase

The insulin-like growth factor II receptor: A potential growth suppressor gene in colorectal carcinoma cells

Genomic Organization and Localization of Gene for Human Carbonic Anhydrase IV to Chromosome 17q

Carbonic Anhydrase Isozymes IV and II in Urinary Membranes from Carbonic Anhydrase II-Deficient Patients

Correction of Murine Mucopolysaccharidosis VII by a Human β- Glucuronidase Transgene

Knockout of the mouse HFE gene produces hemochromatosis

Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13

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