Published in Genome Res on October 01, 1997
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med (2009) 7.53
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet (2000) 4.12
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet (2003) 1.81
The link between the GBA gene and parkinsonism. Lancet Neurol (2012) 1.80
Glucocerebrosidase is shaking up the synucleinopathies. Brain (2014) 1.50
WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins. Oncogene (2004) 1.47
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep (2010) 1.28
Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Proc Natl Acad Sci U S A (1998) 1.23
Sequence variability of a human pseudogene. Genome Res (2001) 1.18
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol Dis (2010) 1.08
The role of saposin C in Gaucher disease. Mol Genet Metab (2012) 1.02
High-throughput carrier screening using TaqMan allelic discrimination. PLoS One (2013) 0.97
Duplication of a genomic region containing the Cdc2L1-2 and MMP21-22 genes on human chromosome 1p36.3 and their linkage to D1Z2. Genome Res (1998) 0.93
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. JIMD Rep (2012) 0.90
Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta (2008) 0.89
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. Am J Hum Genet (1998) 0.88
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet (2006) 0.87
In silico and functional studies of the regulation of the glucocerebrosidase gene. Mol Genet Metab (2009) 0.82
In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools. Front Genet (2014) 0.78
Benzobisthiazoles Represent a Novel Scaffold for Kinase Inhibitors of CLK Family Members. Biochemistry (2016) 0.77
Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease. J Mol Diagn (2011) 0.75
Gaucher disease phenotypes outflanked? Genome Res (1997) 0.75
The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p. Sci Rep (2017) 0.75
Basic local alignment search tool. J Mol Biol (1990) 659.07
Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc Natl Acad Sci U S A (1990) 6.20
Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc Natl Acad Sci U S A (1991) 4.63
The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics (1989) 3.10
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med (1987) 2.77
Alu sequences in the coding regions of mRNA: a source of protein variability. Trends Genet (1994) 2.49
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature (1992) 2.04
Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet (1989) 1.97
Molecular systematics of higher primates: genealogical relations and classification. Proc Natl Acad Sci U S A (1988) 1.66
Episialin, a carcinoma-associated mucin, is generated by a polymorphic gene encoding splice variants with alternative amino termini. J Biol Chem (1990) 1.63
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res (1992) 1.43
Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A (1985) 1.42
Characterization by cDNA cloning of two new human protein kinases. Evidence by sequence comparison of a new family of mammalian protein kinases. J Mol Biol (1994) 1.41
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest (1990) 1.41
Complex alleles of the acid beta-glucosidase gene in Gaucher disease. Am J Hum Genet (1990) 1.41
Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion. J Biol Chem (1997) 1.32
Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet (1997) 1.26
SCAMP 37, a new marker within the general cell surface recycling system. EMBO J (1993) 1.21
Prevalent and rare mutations among Gaucher patients. Gene (1990) 1.17
Structure and organization of the human metaxin gene (MTX) and pseudogene. Genomics (1996) 1.16
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. JAMA (1996) 1.15
Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc Natl Acad Sci U S A (1995) 1.15
High-efficiency yeast artificial chromosome fragmentation vectors. Gene (1991) 1.14
Thrombospondin 3 (Thbs3), a new member of the thrombospondin gene family. J Biol Chem (1992) 1.12
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat (1994) 1.03
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. Hum Genet (1997) 0.98
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse. Mol Chem Neuropathol (1995) 0.90
Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis (1997) 0.87
Structure and organization of the human thrombospondin 3 gene (THBS3). Genomics (1995) 0.86
A tightly organized, conserved gene cluster on mouse chromosome 3 (E3-F1). Mamm Genome (1995) 0.84
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med (2009) 7.53
Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature (1989) 4.18
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet (2000) 4.12
Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis. J Cell Biol (1998) 3.27
Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science (1995) 3.15
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med (1987) 2.77
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology (2006) 2.65
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat (2000) 2.43
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab (2003) 2.29
Enteroaggregative Escherichia coli heat-stable enterotoxin 1 represents another subfamily of E. coli heat-stable toxin. Proc Natl Acad Sci U S A (1993) 2.28
Parkinsonism among Gaucher disease carriers. J Med Genet (2004) 2.24
Stimulation of nonlymphoid mesenchymal cell proliferation by a macrophage-derived growth factor. J Immunol (1981) 2.18
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci U S A (1988) 2.10
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature (1992) 2.04
The structure and expression of the human neuroligin-3 gene. Gene (2000) 1.98
Vasopressin V1b receptor knockout reduces aggressive behavior in male mice. Mol Psychiatry (2002) 1.89
DNA mutation analysis of Gaucher patients. Am J Med Genet (1992) 1.80
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab (2001) 1.74
Characteristics of a Brucella species from a bottlenose dolphin (Tursiops truncatus). J Vet Diagn Invest (1994) 1.74
Ancestry of the 4-chlorobenzoate dehalogenase: analysis of amino acid sequence identities among families of acyl:adenyl ligases, enoyl-CoA hydratases/isomerases, and acyl-CoA thioesterases. Biochemistry (1992) 1.71
Detection of polyglutamine expansion in a new acidic protein: a candidate for childhood onset schizophrenia? Mol Psychiatry (1999) 1.70
cDNA cloning and characterization of the human interleukin 13 receptor alpha chain. J Biol Chem (1996) 1.68
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. Proc Natl Acad Sci U S A (1982) 1.64
Deficiency in mouse oxytocin prevents milk ejection, but not fertility or parturition. J Neuroendocrinol (1996) 1.62
Cloning and analysis of cDNA encoding a major airway glycoprotein, human tracheobronchial mucin (MUC5). J Biol Chem (1994) 1.62
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest (1994) 1.58
Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system. Biochem Biophys Res Commun (1984) 1.55
Transcription of testicular angiotensin-converting enzyme (ACE) is initiated within the 12th intron of the somatic ACE gene. Mol Cell Biol (1990) 1.54
Biosynthesis of the lysosomal enzyme glucocerebrosidase. J Biol Chem (1985) 1.48
Equilibrium binding of thrombin to platelets. Biochemistry (1976) 1.48
Isolation and characterization of the human tyrosine hydroxylase gene: identification of 5' alternative splice sites responsible for multiple mRNAs. Biochemistry (1987) 1.45
A genome-wide search for chromosomal loci linked to mental health wellness in relatives at high risk for bipolar affective disorder among the Old Order Amish. Proc Natl Acad Sci U S A (1998) 1.45
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res (1992) 1.43
Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A (1985) 1.42
Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses. Mol Psychiatry (1998) 1.41
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab (2002) 1.38
Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem (1986) 1.37
Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology (2003) 1.36
Saposin A: second cerebrosidase activator protein. Proc Natl Acad Sci U S A (1989) 1.35
Mouse angiotensin-converting enzyme is a protein composed of two homologous domains. J Biol Chem (1989) 1.34
Cloning and characterization of molecular isoforms of the catalytic subunit of calcineurin using nonisotopic methods. J Biol Chem (1990) 1.30
Epidermal sphingomyelins are precursors for selected stratum corneum ceramides. J Lipid Res (2000) 1.24
A canine chromosome 7 locus confers compulsive disorder susceptibility. Mol Psychiatry (2010) 1.23
Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet (1983) 1.22
Determination of Gaucher's disease phenotypes with monoclonal antibody. Clin Chim Acta (1983) 1.22
The molecular biology of Gaucher disease and the potential for gene therapy. Cold Spring Harb Symp Quant Biol (1986) 1.22
Characterization of a cDNA clone encoding the calmodulin-binding domain of mouse brain calcineurin. Proc Natl Acad Sci U S A (1988) 1.21
Identification of tropomyosin as the major shrimp allergen and characterization of its IgE-binding epitopes. J Immunol (1993) 1.18
Oxytocin and milk removal are required for post-partum mammary-gland development. Genes Funct (1997) 1.17
Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. Pediatr Res (1998) 1.16
Structure and organization of the human metaxin gene (MTX) and pseudogene. Genomics (1996) 1.16
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res (2000) 1.16
Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc Natl Acad Sci U S A (1995) 1.15
Detection of specific mRNAs in single nephron segments by use of the polymerase chain reaction. Am J Physiol (1990) 1.15
Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts. Eur J Biochem (1987) 1.14
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene. Am J Med Genet (1997) 1.14
Age-related changes in alpha 1- and alpha 2-chain type IV collagen mRNAs in adult mouse glomeruli: competitive PCR. Am J Physiol (1992) 1.14
Divergent phenotypes in Gaucher disease implicate the role of modifiers. J Med Genet (2005) 1.13
Primary structure and properties of helothermine, a peptide toxin that blocks ryanodine receptors. Biophys J (1995) 1.12
Saposin D: a sphingomyelinase activator. Biochem Biophys Res Commun (1988) 1.12
Lysosomal proteolysis of prosaposin, the precursor of saposins (sphingolipid activator proteins): its mechanism and inhibition by ganglioside. Arch Biochem Biophys (1997) 1.10
Human tyrosine hydroxylase (TH) genomic fragment (pHGTH4) identifies a PstI polymorphism. Nucleic Acids Res (1988) 1.10
RT-PCR microlocalization of mRNA for guanylyl cyclase-coupled ANF receptor in rat kidney. Am J Physiol (1991) 1.10
Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A. Eur J Biochem (1987) 1.09
The E326K mutation and Gaucher disease: mutation or polymorphism? Clin Genet (2002) 1.09
Monoclonal antibodies against human beta-glucocerebrosidase. Eur J Biochem (1983) 1.08
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol Dis (2010) 1.08
Platelet stimulation by thrombin and other proteases. Biochemistry (1975) 1.08
Regulation of actomyosin interactions in Limulus muscle proteins. J Biol Chem (1993) 1.07
Hydrops fetalis: lysosomal storage disorders in extremis. Adv Pediatr (1999) 1.06
Cloning, genomic organization, and osmotic response of the aldose reductase gene. Proc Natl Acad Sci U S A (1994) 1.04
Isolation and characterization of helothermine, a novel toxin from Heloderma horridum horridum (Mexican beaded lizard) venom. Toxicon (1990) 1.04
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat (1994) 1.03
Charybdotoxin and noxiustoxin, two homologous peptide inhibitors of the K+ (Ca2+) channel. FEBS Lett (1988) 1.03
Identification of a stimulator of steroid hormone synthesis isolated from testis. Science (1995) 1.02
Rat liver carboxylesterase: cDNA cloning, sequencing, and evidence for a multigene family. Biochem Biophys Res Commun (1988) 1.02
55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles. Am J Med Genet (1996) 1.01
Decreased parotid saliva gustin/carbonic anhydrase VI secretion: an enzyme disorder manifested by gustatory and olfactory dysfunction. Am J Med Sci (1999) 1.01
Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res (1996) 1.01