G Faulkner

Summary

Affiliation: University of Trieste
Country: Italy

Publications

  1. ncbi Telethonin and other new proteins of the Z-disc of skeletal muscle
    G Faulkner
    International Centre for Genetic Engineering and Biotechnology, Padriciano, Trieste, Italy
    IUBMB Life 51:275-82. 2001
  2. ncbi FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle
    G Faulkner
    International Centre for Genetic Engineering and Biotechnology, Padriciano 99, I 34012 Trieste, Padova, Italy
    J Biol Chem 275:41234-42. 2000
  3. pmc ZASP: a new Z-band alternatively spliced PDZ-motif protein
    G Faulkner
    International Centre for Genetic Engineering and Biotechnology, I 34012 Trieste, Italy
    J Cell Biol 146:465-75. 1999
  4. ncbi Telethonin, a novel sarcomeric protein of heart and skeletal muscle
    G Valle
    CRIBI Biotechnology Centre, Universita degli Studi di Padova, Padua, Italy
    FEBS Lett 415:163-8. 1997
  5. ncbi Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
    E S Moreira
    1 Centro de Estudos do Genoma Humano, Universidade de Sao Paulo, Sao Paulo, Brazil
    Nat Genet 24:163-6. 2000
  6. ncbi Characterization of human skeletal muscle Ankrd2
    A Pallavicini
    CRIBI Biotechnology Centre, Universita degli Studi di Padova, Via Ugo Bassi 58B, I 35121 Padua, Italy
    Biochem Biophys Res Commun 285:378-86. 2001
  7. ncbi Intranuclear paracrystals observed in striated muscle specific LIM protein-deficient mouse cardiomyocytes
    M Muto
    Department of Veterinary Surgery, Azabu University, Kanagawa, Japan
    Microsc Res Tech 70:50-4. 2007
  8. ncbi Zaspopathy in a large classic late-onset distal myopathy family
    R Griggs
    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
    Brain 130:1477-84. 2007
  9. doi Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
    K G Claeys
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris, Cedex 13, France
    Neuromuscul Disord 18:656-66. 2008

Collaborators

  • G Valle
  • Mayana Zatz
  • Th Voit
  • M Vainzof
  • B Udd
  • B Eymard
  • D Selcen
  • V Mouly
  • K G Claeys
  • R Griggs
  • M Muto
  • A Pallavicini
  • E S Moreira
  • K Tolksdorf
  • A Behin
  • P Vicart
  • T Suominen
  • M Fardeau
  • T Stojkovic
  • G Stoltenburg
  • R Schroder
  • T Maisonobe
  • O Dubourg
  • P Richard
  • Y Nishijima
  • T Nakade
  • K Takeyasu
  • H Haravuori
  • P Tangkawattana
  • Y Hosaka
  • O Carpen
  • J Bonagura
  • M Hoshijima
  • I Richard
  • K Tomono
  • A Vihola
  • A Sargeant
  • A Engel
  • P Hackman
  • M Yamaguchi
  • K Talvinen
  • G Lanfranchi
  • B Pacchioni
  • G Bortoletto
  • M Salamon
  • C Ievolella
  • S Kojic
  • C Bean
  • R Reeves
  • T J Wiltshire
  • O T Suzuki
  • D E Jenne
  • A Nilforoushan
  • M R Passos-Bueno

Detail Information

Publications9

  1. ncbi Telethonin and other new proteins of the Z-disc of skeletal muscle
    G Faulkner
    International Centre for Genetic Engineering and Biotechnology, Padriciano, Trieste, Italy
    IUBMB Life 51:275-82. 2001
    ..A greater knowledge of Z-disc proteins and their interactions is essential for understanding their role in the structure and function of muscle...
  2. ncbi FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle
    G Faulkner
    International Centre for Genetic Engineering and Biotechnology, Padriciano 99, I 34012 Trieste, Padova, Italy
    J Biol Chem 275:41234-42. 2000
    ..Therefore, FATZ may be the first member of a small family of novel muscle proteins...
  3. pmc ZASP: a new Z-band alternatively spliced PDZ-motif protein
    G Faulkner
    International Centre for Genetic Engineering and Biotechnology, I 34012 Trieste, Italy
    J Cell Biol 146:465-75. 1999
    ..The transcript coding for this Z-band alternatively spliced PDZ motif (ZASP) protein maps on chromosome 10q22.3-10q23.2, near the locus for infantile-onset spinocerebellar ataxia...
  4. ncbi Telethonin, a novel sarcomeric protein of heart and skeletal muscle
    G Valle
    CRIBI Biotechnology Centre, Universita degli Studi di Padova, Padua, Italy
    FEBS Lett 415:163-8. 1997
    ..In human, telethonin maps at 17q12, adjacent to the phenylethanolamine N-methyltransferase gene...
  5. ncbi Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
    E S Moreira
    1 Centro de Estudos do Genoma Humano, Universidade de Sao Paulo, Sao Paulo, Brazil
    Nat Genet 24:163-6. 2000
    ..2 Mb. The gene encoding telethonin, a sarcomeric protein, lies within this candidate region. We have found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD...
  6. ncbi Characterization of human skeletal muscle Ankrd2
    A Pallavicini
    CRIBI Biotechnology Centre, Universita degli Studi di Padova, Via Ugo Bassi 58B, I 35121 Padua, Italy
    Biochem Biophys Res Commun 285:378-86. 2001
    ..This is particularly evident in dystrophic muscles, where the expression of Ankrd2 in slow fibers seems to be severely reduced...
  7. ncbi Intranuclear paracrystals observed in striated muscle specific LIM protein-deficient mouse cardiomyocytes
    M Muto
    Department of Veterinary Surgery, Azabu University, Kanagawa, Japan
    Microsc Res Tech 70:50-4. 2007
    ..This is the first report of intranuclear paracrystals in cardiomyocytes, which appear to be unique to MLP(-/-) mice...
  8. ncbi Zaspopathy in a large classic late-onset distal myopathy family
    R Griggs
    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
    Brain 130:1477-84. 2007
    ..Haplotype studies in this family and in five other unrelated families with European ancestry carrying the identical A165V mutation share common markers at the locus suggesting the existence of a founder mutation...
  9. doi Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
    K G Claeys
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris, Cedex 13, France
    Neuromuscul Disord 18:656-66. 2008
    ..We conclude that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs...