Published in J Biol Chem on December 05, 1989
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Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci U S A (1990) 1.91
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Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. Am J Hum Genet (1994) 0.82
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Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. J Biomed Sci (2010) 0.75
Partial amino acid sequence and mRNA analysis of cytosolic pyridoxine-beta-D-glucoside hydrolase from porcine intestinal mucosa: proposed derivation from the lactase-phlorizin hydrolase gene. Biochem J (2004) 0.75
Population analysis of the GLB1 gene in South Brazil. Genet Mol Biol (2011) 0.75
Interacting molecular loops in the mammalian circadian clock. Science (2000) 6.90
Photic induction of mPer1 and mPer2 in cry-deficient mice lacking a biological clock. Science (1999) 3.42
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. Neuron (2005) 2.82
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Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature (1993) 2.36
Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes. EMBO J (2001) 2.34
FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet (1999) 2.23
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature (1992) 2.04
Vesicular stomatitis virus glycoprotein, albumin, and transferrin are transported to the cell surface via the same Golgi vesicles. J Cell Biol (1983) 1.94
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Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J Biol Chem (1984) 1.75
Characterization of the full fragile X syndrome mutation in fetal gametes. Nat Genet (1997) 1.74
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases. Cell (1988) 1.73
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Exp Cell Res (2000) 1.73
Hypermutation of immunoglobulin genes in memory B cells of DNA repair-deficient mice. J Exp Med (1998) 1.63
Normal phenotype in two brothers with a full FMR1 mutation. Hum Mol Genet (1995) 1.63
Characterization and localization of the Huntington disease gene product. Hum Mol Genet (1993) 1.60
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain (2001) 1.59
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. Hum Mol Genet (1998) 1.54
Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein. J Biol Chem (1998) 1.53
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum Mol Genet (1997) 1.49
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Exp Cell Res (2006) 1.47
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. J Clin Invest (1987) 1.45
Cockayne syndrome: defective repair of transcription? EMBO J (1997) 1.40
Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev (1996) 1.39
Characterization of photolyase/blue-light receptor homologs in mouse and human cells. Nucleic Acids Res (1998) 1.38
The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet B Neuropsychiatr Genet (2009) 1.37
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells. Genes Dev (1995) 1.37
View of a mouse clock gene ticking. Nature (2001) 1.36
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. Hum Mol Genet (1999) 1.35
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis (2005) 1.34
In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum Mol Genet (1998) 1.34
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology (2008) 1.31
Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function. J Biol Chem (1991) 1.30
Transport and topology of galactosyltransferase in endomembranes of HeLa cells. J Cell Biol (1983) 1.26
Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase. Hum Mol Genet (1997) 1.24
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells. Biochem J (1990) 1.24
Isolation and characterization of nuclear genes coding for subunits of the yeast ubiquinol-cytochrome c reductase complex. Gene (1982) 1.18
Genetic heterogeneity in human neuraminidase deficiency. Nature (1980) 1.16
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. Proc Natl Acad Sci U S A (2001) 1.15
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. Hum Mol Genet (1994) 1.14
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet (2000) 1.13
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. J Biol Chem (1984) 1.12
Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C. Pharmacogenetics (1999) 1.11
Expression of the ubiquitin-conjugating DNA repair enzymes HHR6A and B suggests a role in spermatogenesis and chromatin modification. Dev Biol (1996) 1.11
FMR1 premutation allele (CGG)81 is stable in mice. Eur J Hum Genet (1998) 1.11
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. J Med Genet (1996) 1.10
Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A. EMBO J (1998) 1.10
Three-dimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism. Structure (1995) 1.09
Mouse "protective protein". cDNA cloning, sequence comparison, and expression. J Biol Chem (1990) 1.09
Workshop on inborn errors of metabolism. Prog Clin Biol Res (1982) 1.09
The human beta-globin locus control region confers an early embryonic erythroid-specific expression pattern to a basic promoter driving the bacterial lacZ gene. Development (1996) 1.09
The level of the tissue-specific factor GATA-1 affects the cell-cycle machinery. Genes Funct (1997) 1.09
The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells. Am J Med Genet (1996) 1.04
Prenatal diagnosis of fragile X syndrome. Lancet (1996) 1.03
Impact of global genome repair versus transcription-coupled repair on ultraviolet carcinogenesis in hairless mice. Cancer Res (2000) 1.03
Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice. J Lipid Res (2005) 1.02
A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse. Hum Mol Genet (1998) 1.02
Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology. Brain (2005) 1.01
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. J Med Genet (1996) 1.01
A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable. EMBO J (1991) 1.00
Identification and in vitro reconstitution of lysosomal neuraminidase from human placenta. J Biol Chem (1989) 0.99
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol (2009) 0.99
Fragile X syndrome at the turn of the century. Mol Med Today (2000) 0.99
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice. J Clin Invest (1991) 0.99
Mammalian nucleotide excision repair and syndromes. Biochem Soc Trans (1997) 0.99
Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme. J Biol Chem (2000) 0.98
Lysosomal neuraminidase. Catalytic activation in insect cells is controlled by the protective protein/cathepsin A. J Biol Chem (2000) 0.97
alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder. J Inherit Metab Dis (1988) 0.97
Age-dependent spontaneous mutagenesis in Xpc mice defective in nucleotide excision repair. Oncogene (2000) 0.97
Human malignant mesothelioma cell lines express PDGF beta-receptors whereas cultured normal mesothelial cells express predominantly PDGF alpha-receptors. Oncogene (1991) 0.96
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. Cancer Res (1999) 0.96
The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study. Eur J Cell Biol (1985) 0.95
Juvenile hyaline fibromatosis: clinical heterogeneity in three patients. Dermatology (1999) 0.95
The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice. Genes Brain Behav (2012) 0.95
Correction of murine galactosialidosis by bone marrow-derived macrophages overexpressing human protective protein/cathepsin A under control of the colony-stimulating factor-1 receptor promoter. Proc Natl Acad Sci U S A (1998) 0.93
Differential role of transcription-coupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis. Proc Natl Acad Sci U S A (2000) 0.93
Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum. J Biol Chem (1992) 0.93
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. Hum Mol Genet (1996) 0.92
Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. Am J Hum Genet (1995) 0.92
Lysosomal protective protein/cathepsin A. Role of the "linker" domain in catalytic activation. J Biol Chem (1995) 0.92
Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome. J Biol Chem (1984) 0.92