B Weber

Summary

Affiliation: South Australia
Country: Australia

Publications

  1. ncbi Novel mutations in Sanfilippo A syndrome: implications for enzyme function
    B Weber
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    Hum Mol Genet 6:1573-9. 1997
  2. ncbi Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
    B Weber
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    Eur J Hum Genet 7:34-44. 1999
  3. ncbi Molecular defects in Sanfilippo syndrome type A
    L Blanch
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    Hum Mol Genet 6:787-91. 1997
  4. ncbi Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands
    B Weber
    Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    J Inherit Metab Dis 21:416-22. 1998
  5. ncbi Structure and sequence of the human sulphamidase gene
    L E Karageorgos
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    DNA Res 3:269-71. 1996
  6. ncbi Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase
    B Weber
    Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, 72 King William Road, SA 5006, North Adelaide, Australia
    Protein Expr Purif 21:251-9. 2001
  7. ncbi Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient
    G Yogalingam
    Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Biochim Biophys Acta 1502:415-25. 2000
  8. ncbi Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients
    K J Perkins
    Lysosomal Storage Research Unit, Department of Chemical Pathology, Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia, 5006, Australia
    Mol Genet Metab 73:306-12. 2001
  9. ncbi Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)
    B Weber
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    Hum Mol Genet 5:771-7. 1996
  10. ncbi Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects
    S Esposito
    Department of Biochemistry and Medical Biotechnologies, Medical School, University of Naples Federico II, Naples, Italy
    Biochim Biophys Acta 1501:1-11. 2000

Collaborators

  • W J Kleijer
  • H S Scott
  • G Yogalingam
  • B J Poorthuis
  • L E Karageorgos
  • J E Wraith
  • S Bunge
  • A Pillay
  • Mary Claire King
  • JEFFREY A ROGERS
  • Terence Davis
  • Annick Thomas
  • K Offit
  • A Mühlbacher
  • J Molepo
  • J J Hopwood
  • K J Perkins
  • T Ferrari
  • S Esposito
  • V Bossi
  • H S Kim
  • J v Helden
  • S Louisirirotchanakul
  • J Cabrera
  • P Burgisser
  • A Eiras
  • J-M Echevarria
  • F W Tiller
  • J M Echevarria
  • F-W Tiller
  • H-S Kim
  • S A Morse
  • A A Hoosen
  • M Redston
  • L Blanch
  • S V Tavtigian
  • V Muller
  • A Borkhardt
  • J Harbott
  • S Pils
  • G R Villani
  • P Di Natale
  • K Perkins
  • C Stoetzel
  • N Balzano
  • A Daniele
  • J Satagopan
  • W Foulkes
  • E Warner
  • H Ozcelik
  • I Andrulis
  • D Yang
  • K L Nathanson
  • J Abrahamson
  • D Schrag
  • M Kaback
  • L Pinsky
  • N Wong
  • M Daly
  • D Nafa
  • L C Brody
  • T Woodage
  • Z Q Yuan
  • A Godwin
  • D Antin-Ozerkis
  • S L Neuhausen
  • S Gallinger
  • X H Guo
  • R Kehrer
  • C Belanger
  • C Frye
  • F Couch
  • J McArthur-Morrison
  • T Janecki
  • L Cannon-Albright
  • M Stringfellow
  • M Schroeder
  • S Thorlacius
  • D Stoppa-Lyonnet
  • M Dumont
  • D E Goldgar
  • L Steele
  • S Jammulapati
  • B Swedlund
  • P Jiang
  • S Merajver
  • J T Mitchell
  • F Labrie
  • M H Skolnick
  • A K Wong

Detail Information

Publications21

  1. ncbi Novel mutations in Sanfilippo A syndrome: implications for enzyme function
    B Weber
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    Hum Mol Genet 6:1573-9. 1997
    ..8% in patients from The Netherlands. The identification of mutations common in certain geographic regions or ethnic groups will help in the diagnosis of MPS IIIA and allow carrier testing and improved genetic counselling...
  2. ncbi Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
    B Weber
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    Eur J Hum Genet 7:34-44. 1999
    ..Several arginine residues seem to be 'hot-spots' for mutations, being affected by two or three individual base pair exchanges...
  3. ncbi Molecular defects in Sanfilippo syndrome type A
    L Blanch
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    Hum Mol Genet 6:787-91. 1997
    ..This is the first study of the molecular defects in MPS-IIIA patients and will greatly assist the development of molecular analysis for MPS-IIIA patients and studies concerned with genotype to phenotype relationships...
  4. ncbi Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands
    B Weber
    Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    J Inherit Metab Dis 21:416-22. 1998
    ..The R245H allele had a higher prevalence in western rather than eastern regions of The Netherlands...
  5. ncbi Structure and sequence of the human sulphamidase gene
    L E Karageorgos
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    DNA Res 3:269-71. 1996
    ..The structure of the gene and the sequence of the exon/intron boundaries and the 5' promoter region were determined. The sulphamidase gene is split into 8 exons spanning approximately 11 kb...
  6. ncbi Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase
    B Weber
    Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, 72 King William Road, SA 5006, North Adelaide, Australia
    Protein Expr Purif 21:251-9. 2001
    ..These results suggest that the use of secreted NAGLU in future enzyme and gene replacement therapy protocols will be severely limited due to its small degree of mannose-6-phosphorylation...
  7. ncbi Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient
    G Yogalingam
    Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Biochim Biophys Acta 1502:415-25. 2000
    ..The combined biochemical phenotypes of the two NAG mutant alleles demonstrated a good correspondence with the observed attenuated Sanfilippo phenotype of the patient...
  8. ncbi Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients
    K J Perkins
    Lysosomal Storage Research Unit, Department of Chemical Pathology, Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia, 5006, Australia
    Mol Genet Metab 73:306-12. 2001
    ..Also proposed is that an enzyme-replacement therapy achieving a correction of approximately 10% of normal NS activity is required to avoid the onset of a Sanfilippo clinical phenotype...
  9. ncbi Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)
    B Weber
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    Hum Mol Genet 5:771-7. 1996
    ..This will allow correction studies with NAG deficient Sanfilippo B cell lines and facilitate the development of enzyme replacement therapy for these patients...
  10. ncbi Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects
    S Esposito
    Department of Biochemistry and Medical Biotechnologies, Medical School, University of Naples Federico II, Naples, Italy
    Biochim Biophys Acta 1501:1-11. 2000
    ..Western blot, metabolic labeling and immunofluorescence experiments suggested, for mutations 166delG, L146P, 1040insT and 1093insG, an increased degradation of the mutant enzymes...
  11. ncbi Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
    S Bunge
    Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Hum Mutat 10:479-85. 1997
    ....
  12. ncbi The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds
    S V Tavtigian
    Myriad Genetics Inc, Salt Lake City, Utah, USA
    Nat Genet 12:333-7. 1996
    ..Together with the specific mutations described previously, our data provide preliminary insight into the BRCA2 mutation profile...
  13. ncbi (CA)n-dinucleotide repeat at the PDEB locus in 4p16.3
    B Weber
    University of British Columbia, Department of Medical Genetics, Vancouver, Canada
    Hum Mol Genet 2:827. 1993
  14. ncbi Reduction of the diagnostic window in three cases of human immunodeficiency-1 subtype E primary infection with fourth-generation HIV screening assays
    B Weber
    Laboratoires Réunis Kutter Lieners Hastert, Junglinster, Luxembourg
    Vox Sang 85:73-9. 2003
    ....
  15. ncbi Molecular typing of Treponema pallidum strains from patients with neurosyphilis in Pretoria, South Africa
    J Molepo
    Department of Microbiological Pathology, Medunsa Campus, University of Limpopo, Pretoria, South Africa
    Sex Transm Infect 83:189-92. 2007
    ..To evaluate the molecular typing system for Treponema pallidum using cerebrospinal fluid (CSF) specimens obtained from patients with neurosyphilis in Pretoria, South Africa...
  16. ncbi Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3
    B Weber
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Nucleic Acids Res 19:6263-8. 1991
    ..The cloning of the human homolog and the knowledge of its genomic organization with exon/intron boundaries will allow rapid assessment of the role of this gene in the causation of human retinopathies...
  17. ncbi Absence of point mutations within the AML-1 gene in patients with MDS/AML and loss of chromosome 5q or 7
    T Ferrari
    Hematology and Oncology, Children's University Hospital Giessen, Giessen, Germany
    Ann Hematol 80:72-3. 2001
    ..Therefore, we sequenced all exons of the AML-1 gene in 15 patients with MDS/AML and deleted chromosome 5q or 7q, respectively. None of the patients analyzed had any AML-1 mutation...
  18. ncbi Polymorphisms of surfactant protein A genes and the risk of bronchopulmonary dysplasia in preterm infants
    B Weber
    Department of Pediatrics and Neonatology, Justus Liebig University, University Children s Hospital, Giessen, Germany
    Turk J Pediatr 42:181-5. 2000
    ..In addition to previously established risk factors for BPD, 6A6 polymorphism for SP-A1 gene is an independent co-factor. We believe treatment of neonatal RDS should also include stratification according to genetic risk factors...
  19. ncbi The APCI1307K allele and breast cancer risk
    M Redston
    Nat Genet 20:13-4. 1998
  20. ncbi Dorso-ventral and rostro-caudal sequential expression of M-twist in the postimplantation murine embryo
    C Stoetzel
    LGME du CNRS, U 184 de l INSERM, Faculte de Medecine, Strasbourg, France
    Mech Dev 51:251-63. 1995
    ..In addition, we show the existence of some previously undescribed subsets of scattered cells that express M-twist and thus might participate in murine embryo development...
  21. ncbi Multicenter study of a new fully automated HBsAg screening assay with enhanced sensitivity for the detection of HBV mutants
    A Mühlbacher
    Universitätsklinik für Blutgruppenserologie und Transfusionsmedizin der Paracelsus Medizinischen Privatuniversität Salzburg, Salzburg, Austria
    Med Microbiol Immunol 197:55-64. 2008
    ....