GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Disease: Mucopolysaccharidosis VII ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 CausalMutation disease CLINVAR Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. 26036949 2015
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE Mucopolysaccharidosis type VII (MPS VII) is an inherited disease caused by beta-glucuronidase (beta-glu) deficiency. 11906211 2002
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease BEFREE Low enzymatic activity can be related to a non-pathological 'pseudodeficiency' allele for beta-glucuronidase; this woman appears to be an apparent compound heterozygote for this allele and mucopolysaccharidosis VII. 1779649 1991
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease BEFREE The low beta-glucuronidase activity in another mild MPS VII patient was due to reduced biosynthesis of stable mRNA from one allele, and a W446X mutation on the second. 9490302 1998
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE We have used the beta-glucuronidase-deficient mouse model of mucopolysaccharidosis type VII (MPS VII) to develop an alternative approach to therapy. 11044913 2000
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease UNIPROT We used reverse-transcription-PCR-SSCP and direct sequencing to screen for mutations in the human beta-glucuronidase cDNA of 17 MPS VII patients with severe presentation of the disease. 8644704 1996
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE We report on a 20-year-old male with a beta-glucuronidase (GUSB) deficiency mucopolysaccharidosis. 1456283 1992
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease UNIPROT Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. 7680524 1993
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease BEFREE A point mutation which occurred in the human beta-glucuronidase gene in a patient with mucopolysaccharidosis type VII was also conserved. 1318788 1992
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease MGD Transgenic mice homozygous for the mucopolysaccharidosis VII mutation expressed high levels of human beta-glucuronidase activity in all tissues examined and were phenotypically normal. 2111021 1990
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease BEFREE The beta-glucuronidase (GUSB) mutation of the mucopolysaccharidosis type VII (MPSVII) mouse was backcrossed onto the nonobese diabetic/severe combined immunodeficient (NOD/SCID) xenotransplantation strain. 12406886 2003
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease BEFREE Dogs with mucopolysaccharidosis VII (MPS VII) were injected intravenously at 2-3 days of age with a retroviral vector (RV) expressing canine beta-glucuronidase (cGUSB). 12232044 2002
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 AlteredExpression disease BEFREE Neonatal intramuscular injection with recombinant adeno-associated virus results in prolonged beta-glucuronidase expression in situ and correction of liver pathology in mucopolysaccharidosis type VII mice. 10022533 1999
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 CausalMutation disease CLINVAR Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. 7633414 1995
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE Mucopolysaccharidosis type VII (MPS VII) is caused by the deficiency of the lysosomal hydrolase β-glucuronidase. 20864369 2010
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 AlteredExpression disease BEFREE Adenovirus-mediated gene transfer and expression of human beta-glucuronidase gene in the liver, spleen, and central nervous system in mucopolysaccharidosis type VII mice. 9037045 1997
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 AlteredExpression disease BEFREE To clarify the cross-correction of GUSB secreted from mAEC, the conditioned medium containing high levels of GUSB was added into the medium for culturing human or murine fibroblasts established from an MPSVII patient or a mouse model of the disease. 11549068 2001
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE To achieve this, we injected AxCAhGUS and AxCACTLA-4Ig into MPSVII mice. 10933961 2000
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE Mucopolysaccharidosis type VII (MPS VII) is characterized by deficient β-glucuronidase (GUSB) activity, which leads to accumulation of chondroitin, heparan and dermatan sulfate glycosaminoglycans (GAGs), and multisystemic disease. 22513347 2012
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE We stereotactically injected an AAV vector containing the human beta-glucuronidase cDNA into the striatum of adult mice severely affected by mucopolysaccharidosis type VII at the time of treatment. 10933913 2000
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation disease BEFREE Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII. 9987917 1999
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 AlteredExpression disease BEFREE Mucopolysaccharidosis type VII is a lysosomal storage disease resulting from a deficiency of beta-glucuronidase (BG) activity. 3924735 1985
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val. 2115490 1990
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker disease BEFREE Neonatal dogs with mucopolysaccharidosis VII (MPS VII) received an i.v.injection of an RV containing the canine beta-glucuronidase (cGUSB) cDNA. 11829521 2002