Anthony O Fedele

Summary

Affiliation: University of Adelaide
Country: Australia

Publications

  1. pmc A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
    Rossella De Cegli
    Telethon Institute of Genetics and Medicine, Via P, Castellino 111, Napoli, 80131, Italy
    Genome Biol 11:R64. 2010
  2. doi request reprint Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
    Anthony O Fedele
    Lysosomal Diseases Research Unit LDRU, SA Pathology, North Adelaide, Australia
    Hum Mutat 31:E1574-86. 2010

Collaborators

  • John J Hopwood
  • Rossella De Cegli
  • Simona Iacobacci
  • Sandro Banfi
  • Gilda Cobellis
  • Antonio Romito
  • Stylianos E Antonarakis
  • Joachim Klose
  • Lei Mao
  • Patrick Descombes
  • Andrea Ballabio
  • Diego di Bernardo
  • Christelle Borel
  • Mario Lauria

Detail Information

Publications2

  1. pmc A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
    Rossella De Cegli
    Telethon Institute of Genetics and Medicine, Via P, Castellino 111, Napoli, 80131, Italy
    Genome Biol 11:R64. 2010
    ..Dosage imbalance is responsible for several genetic diseases, among which Down syndrome is caused by the trisomy of human chromosome 21...
  2. doi request reprint Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
    Anthony O Fedele
    Lysosomal Diseases Research Unit LDRU, SA Pathology, North Adelaide, Australia
    Hum Mutat 31:E1574-86. 2010
    ..1843G>A (p.A615T), which independently has a negligible effect on HGSNAT expression. This report suggests that these may function together to abolish HGSNAT activity...