Michael D Briggs

Summary

Affiliation: University of Manchester
Country: UK

Publications

  1. pmc A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia
    Farhana Suleman
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, The University of Manchester, Manchester, United Kingdom
    Hum Mutat 33:218-31. 2012
  2. pmc A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia
    Katarzyna A Piróg
    Faculty of Life Sciences, Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Michael Smith Building, Manchester, UK
    Hum Mol Genet 19:52-64. 2010
  3. pmc Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
    Gail C Jackson
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK
    Am J Med Genet A 152:863-9. 2010
  4. pmc Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
    Sally L Cotterill
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom
    Hum Mutat 26:557-65. 2005
  5. pmc Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly
    Maryline Fresquet
    Faculty of Life Sciences, Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester M13 9PT, United Kingdom
    J Biol Chem 285:34048-61. 2010
  6. pmc Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
    Gail C Jackson
    Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester, United Kingdom
    Hum Mutat 33:144-57. 2012
  7. pmc An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia
    Seema Nundlall
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK
    Cell Stress Chaperones 15:835-49. 2010
  8. pmc Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
    Katarzyna A Piróg-Garcia
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK
    Hum Mol Genet 16:2072-88. 2007
  9. pmc Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation
    Matthew P Leighton
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK
    Hum Mol Genet 16:1728-41. 2007
  10. pmc Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases
    Claire L Hartley
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, The University of Manchester, Manchester M13 9PT, England
    Hum Mol Genet 22:5262-75. 2013

Collaborators

  • Raymond P Boot-Handford
  • David J Thornton
  • Kathryn L Chapman
  • Peter Arvan
  • Valerie Cormier-Daire
  • Simon C Ramsden
  • Sheila Unger
  • Richard Wilson
  • Gen Nishimura
  • Christine M Hall
  • William G Cole
  • Andreas Zankl
  • Luisa Bonafe
  • John F Bateman
  • Dick Heinegard
  • Maryline Fresquet
  • Gail C Jackson
  • Katarzyna A Piróg
  • Karl E Kadler
  • Peter A Bell
  • M Helen Rajpar
  • Darren A Plumb
  • Seema Nundlall
  • Matthew P Leighton
  • Roger S Meadows
  • Benedetta Gualeni
  • Farhana Suleman
  • Jason Kennedy
  • Lynette Knowles
  • Michael J Wright
  • Rob Elles
  • Claire L Hartley
  • Sarah Edwards
  • Louise H W Kung
  • Jacqueline A Taylor
  • Laila Ferrara
  • Aleksandr Mironov
  • Thomas A Jowitt
  • Joni Ylostalo
  • Geert R Mortier
  • Richard Poulsom
  • Katarzyna A Piróg-Garcia
  • Raimund Wagener
  • Sally L Cotterill
  • Aaron Kellogg
  • Lorna Mullan
  • Paul Holden
  • Ravi Savarirayan
  • Andrea Superti-Furga
  • Juergen Spranger
  • Martine Le Merrer
  • Amaka Offiah
  • Bernhard Zabel
  • Laureane Mittaz-Crettol
  • Hannah J Gregson
  • Tanja Torbica
  • Lynnette Knowles
  • Irene Stolte-Dijkstra
  • Christopher Clowes
  • Dominique Marcus-Soekarman
  • Benjamin Gardner
  • Oihane Jaka
  • Aad Verrips
  • Louise A Stephen
  • Leo A H Zeeff
  • Yoshihisa Katakura
  • Louise Kung
  • Mel Heeran
  • Ben McDermott
  • Rachel Eardley
  • John Loughlin
  • Paul Coffey
  • Leena Ala-Kokko
  • Tobias Starborg
  • Vivek Dhir
  • Gail Jackson
  • Dian Donnai
  • William Newman
  • Outi Makitie
  • Faye S Barker
  • Jacky Taylor
  • Elizabeth Thompson
  • Katherine Neas
  • Jordi Bella

Detail Information

Publications24

  1. pmc A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia
    Farhana Suleman
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, The University of Manchester, Manchester, United Kingdom
    Hum Mutat 33:218-31. 2012
    ..Overall, these data suggest that a novel form of chondrocyte stress triggered by the expression of mutant COMP is central to the pathogenesis of PSACH...
  2. pmc A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia
    Katarzyna A Piróg
    Faculty of Life Sciences, Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Michael Smith Building, Manchester, UK
    Hum Mol Genet 19:52-64. 2010
    ..This is the first comprehensive characterization of the musculoskeletal phenotype of PSACH-MED and is directly relevant to the clinical management of these patients...
  3. pmc Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
    Gail C Jackson
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK
    Am J Med Genet A 152:863-9. 2010
    ..This study therefore extends the range of gene-mutations that can cause MED-related myopathy. (c) 2010 Wiley-Liss, Inc...
  4. pmc Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
    Sally L Cotterill
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom
    Hum Mutat 26:557-65. 2005
    ..In summary, the data presented in this paper suggest that MED caused by MATN3 mutations is the result of an intracellular retention of the mutant protein...
  5. pmc Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly
    Maryline Fresquet
    Faculty of Life Sciences, Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester M13 9PT, United Kingdom
    J Biol Chem 285:34048-61. 2010
    ..Differing affinities could act to regulate the integrated network, thus coordinating the organization of the macromolecular structures in the cartilage ECM...
  6. pmc Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
    Gail C Jackson
    Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester, United Kingdom
    Hum Mutat 33:144-57. 2012
    ..Furthermore, this study provides the first indication of the relative contribution of each gene and confirms that they account for the majority of PSACH and MED...
  7. pmc An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia
    Seema Nundlall
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK
    Cell Stress Chaperones 15:835-49. 2010
    ..We performed similar studies with a mouse model of Schmid metaphyseal chondrodysplasia, but again this treatment did not improve the phenotype...
  8. pmc Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
    Katarzyna A Piróg-Garcia
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK
    Hum Mol Genet 16:2072-88. 2007
    ..This ultimately affects the morphology and proliferation of growth plate chondrocytes, eventually leading to chondrodysplasia and reduced long bone growth...
  9. pmc Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation
    Matthew P Leighton
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK
    Hum Mol Genet 16:1728-41. 2007
    ....
  10. pmc Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases
    Claire L Hartley
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, The University of Manchester, Manchester M13 9PT, England
    Hum Mol Genet 22:5262-75. 2013
    ....
  11. pmc Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases
    Maryline Fresquet
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, United Kingdom
    J Biol Chem 282:34634-43. 2007
    ..Furthermore, we have also determined that the matrilin-3 A-domain appears to bind exclusively to the COL3 domain of type IX collagen and that this binding is abolished in the presence of a disease causing mutation in type IX collagen...
  12. pmc Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation
    Peter A Bell
    University of Manchester, Manchester, UK
    Arthritis Rheum 64:1529-39. 2012
    ..The aim of this study was to investigate the hypothesis that deletion of matrilin 1 would abolish the formation of matrilin 1/matrilin 3 hetero-oligomers, eliminate the secretion of mutant matrilin 3, and influence disease severity...
  13. pmc Collagen XXVII organises the pericellular matrix in the growth plate
    Darren A Plumb
    Wellcome Trust Centre for Cell Matrix Research, The University of Manchester, Manchester, United Kingdom
    PLoS ONE 6:e29422. 2011
    ..Collagen XXVII plays an important structural role in the pericellular extracellular matrix of the growth plate and is required for the organisation of the proliferative zone...
  14. doi request reprint Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3
    Maryline Fresquet
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom
    Hum Mutat 29:330. 2008
    ..Therefore, despite extensive biochemical analysis the disease mechanism of p.Lys231Asn remains unresolved and care should be taken in counseling for these types of mutation in MATN3...
  15. ncbi request reprint Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group
    Jason Kennedy
    National Genetics Reference Laboratory Manchester and Regional Genetics Service, St Mary s Hospital, Manchester, M13 0JH, United Kingdom
    Hum Mutat 25:593-4. 2005
    ..These regions are probably important in stabilising the T3-CTD structure and mediating intra- or intermolecular interactions...
  16. ncbi request reprint Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia
    Kathryn L Chapman
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, 2 205 Stopford Building, Oxford Road, Manchester, M13 9PT, UK
    Pediatr Pathol Mol Med 22:53-75. 2003
    ..In addition, a greater understanding of the role and interactions of specific cartilage molecules may reveal the basis of more widespread cartilage disorders such as osteoarthritis...
  17. pmc Targeted induction of endoplasmic reticulum stress induces cartilage pathology
    M Helen Rajpar
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, The University of Manchester, Manchester, United Kingdom
    PLoS Genet 5:e1000691. 2009
    ..These findings support the contention that ER stress may play a direct role in the pathogenesis of many connective tissue disorders associated with the expression of mutant extracellular matrix proteins...
  18. pmc A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth
    Benedetta Gualeni
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, M13 9PT, UK
    Dis Model Mech 6:1414-25. 2013
    ..The specific disease pathways triggered by mutant protein retention do not necessarily involve a prototypic UPR, but all pathways impact upon chondrocyte proliferation in the cartilage growth plate. ..
  19. pmc Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein response
    Louise H W Kung
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, The University of Manchester, Manchester, United Kingdom
    J Histochem Cytochem 60:734-48. 2012
    ....
  20. ncbi request reprint Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations
    Michael D Briggs
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, Manchester, UK
    Hum Mutat 19:465-78. 2002
    ....
  21. pmc Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens
    Darren A Plumb
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, United Kingdom
    J Biol Chem 282:12791-5. 2007
    ..The transient nature of its expression and unusual fibrillar structure suggest that collagen XXVII plays a developmental role distinct from those of the classical fibrillar collagens...
  22. pmc COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
    Jason Kennedy
    National Genetics Reference Laboratory Manchester, Regional Genetics Services, St Mary s Hospital, Manchester, UK
    Eur J Hum Genet 13:547-55. 2005
    ..Furthermore, in several of these families, the identification of a disease-causing mutation provided information that was immediately used to direct reproductive decision-making...
  23. pmc The unfolded protein response and its relevance to connective tissue diseases
    Raymond P Boot-Handford
    Wellcome Trust Centre for Cell Matrix Research, The University of Manchester, UK
    Cell Tissue Res 339:197-211. 2010
    ..This review focuses on ER stress and the UPR that characterises an increasing number of connective tissue diseases and highlights novel therapeutic opportunities that may arise...
  24. pmc Skeletal dysplasias associated with mild myopathy-a clinical and molecular review
    Katarzyna A Piróg
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK
    J Biomed Biotechnol 2010:686457. 2010
    ....