S R Lamande

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. ncbi Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion
    S R Lamande
    Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    J Biol Chem 274:21817-22. 1999
  2. ncbi Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
    S R Lamande
    Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne and Murdoch Institute, Royal Children s Hospital, Parkville 3052, Australia
    Hum Mol Genet 7:981-9. 1998
  3. ncbi Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta
    J F Bateman
    Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
    Am J Med Genet 45:233-40. 1993
  4. ncbi Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA
    J F Bateman
    Department of Pediatrics, University of Melbourne, Royal Children s Hospital, Australia
    J Biol Chem 263:11627-30. 1988
  5. ncbi Genomic sequence of mouse COL1A1 encoding the collagen propeptides
    S P Fenton
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Australia
    Biochim Biophys Acta 1216:469-74. 1993
  6. ncbi A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV
    W G Cole
    Department of Pediatrics, University of Melbourne, Parkville, Victoria, Australia
    J Biol Chem 265:17070-7. 1990
  7. ncbi Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta
    S R Lamande
    Department of Pediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    J Biol Chem 264:15809-12. 1989
  8. ncbi The type I collagen pro alpha 1(I) COOH-terminal propeptide N-linked oligosaccharide. Functional analysis by site-directed mutagenesis
    S R Lamande
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    J Biol Chem 270:17858-65. 1995
  9. ncbi Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability
    J F Bateman
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Hum Mutat 13:311-7. 1999
  10. ncbi Molecular analysis for genetic counselling in amelogenesis imperfecta
    M J Aldred
    Department of Dentistry, Royal Children s Hospital, Melbourne, Australia
    Oral Dis 8:249-53. 2002

Collaborators

Detail Information

Publications11

  1. ncbi Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion
    S R Lamande
    Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    J Biol Chem 274:21817-22. 1999
    ..These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy...
  2. ncbi Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
    S R Lamande
    Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne and Murdoch Institute, Royal Children s Hospital, Parkville 3052, Australia
    Hum Mol Genet 7:981-9. 1998
    ....
  3. ncbi Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta
    J F Bateman
    Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
    Am J Med Genet 45:233-40. 1993
    ..In 4 of these 8 cases the mismatch resulted from presumably neutral sequence variation and in the other 4 cases mutations have been defined.(ABSTRACT TRUNCATED AT 250 WORDS)..
  4. ncbi Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA
    J F Bateman
    Department of Pediatrics, University of Melbourne, Royal Children s Hospital, Australia
    J Biol Chem 263:11627-30. 1988
    ..This mutation is consistent with the functional abnormalities of collagen observed in this case such as reduced helical stability, reduced secretion, increased degradation, and excessive posttranslational modification of lysine...
  5. ncbi Genomic sequence of mouse COL1A1 encoding the collagen propeptides
    S P Fenton
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Australia
    Biochim Biophys Acta 1216:469-74. 1993
    ..This gene sequence information will allow the production of specific gene mutations by site-directed mutagenesis to study the structure and function of these important propeptide domains...
  6. ncbi A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV
    W G Cole
    Department of Pediatrics, University of Melbourne, Parkville, Victoria, Australia
    J Biol Chem 265:17070-7. 1990
    ..The mutant homotrimer molecules were the major pepsin-resistant species and about 69% of the alpha 1(III) mRNA was in the mutant form...
  7. ncbi Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta
    S R Lamande
    Department of Pediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    J Biol Chem 264:15809-12. 1989
    ..These mutations emphasize the importance of the Gly-X-Y repeating amino acid sequence for normal collagen helix formation and function in the extracellular matrix...
  8. ncbi The type I collagen pro alpha 1(I) COOH-terminal propeptide N-linked oligosaccharide. Functional analysis by site-directed mutagenesis
    S R Lamande
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    J Biol Chem 270:17858-65. 1995
    ....
  9. ncbi Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability
    J F Bateman
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Hum Mutat 13:311-7. 1999
    ..The greatly increased sensitivity and reliability of this RT-PCR/PTT protocol has broad applicability to the many genetic diseases in which only blood-derived cells may be readily available for analysis...
  10. ncbi Molecular analysis for genetic counselling in amelogenesis imperfecta
    M J Aldred
    Department of Dentistry, Royal Children s Hospital, Melbourne, Australia
    Oral Dis 8:249-53. 2002
    ..To use molecular genetics to establish the mode of inheritance in a family with amelogenesis imperfecta...
  11. ncbi The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line
    S R Lamande
    Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    J Biol Chem 273:7423-30. 1998
    ..These data demonstrated that alpha3(VI) is essential for the formation of stable collagen VI molecules and subdomains N10-N7 are not required for molecular assembly...