Anthony Fedele


  • 388 Citations
  • 8 h-Index
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Personal profile

Public Profile

Under the supervision of Prof. Murray Whitelaw, Anthony’s PhD (2000-2004) investigated the regulation and function of the hypoxia inducible transcription factors HIF-1α and HIF-2α. He then undertook a post-doctoral scientist (2005-2007) position in the laboratory of Prof. Andrea Ballabio (Telethon Institute for Genetics and Medicine (TIGEM) Naples, Italy). Here, he studied the metabolic enzyme HGSNAT, whose dysfunction causes mucopolysaccharidosis type IIIC (MPS IIIC), by analysing and sequencing the HGSNAT alleles of MPS IIIC patients. Anthony joined the Hopwood Centre for Neurobiology (formally the Lysosomal Diseases Research Unit) in 2008, where he has performed a systematic functional analysis of known missense mutations of HGSNAT, and investigated the trafficking of HGSNAT through the endo-lysosomal network. He is currently working on the signalling pathways involved in the transcriptional regulation of genes involved in lysosomal biogenesis and autophagy.

Research Output 2002 2018

  • 388 Citations
  • 8 h-Index
  • 8 Article
  • 2 Review article
2 Citations (Scopus)

Lysosomal N-acetyltransferase interacts with ALIX and is detected in extracellular vesicles

Fedele, A. O., Isenmann, S., Kamei, M., Snel, M., Trim, P., Proud, C. & Hopwood, J., 1 Oct 2018, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1865, 10, p. 1451-1464 14 p.

Research output: Contribution to journalArticle

31 Citations (Scopus)

Sanfilippo syndrome: Causes, consequences, and treatments

Fedele, A., 25 Nov 2015, In : Application of Clinical Genetics. 8, p. 269-281 13 p.

Research output: Contribution to journalReview article

9 Citations (Scopus)

Hypoxic Induction of the Regulator of G-Protein Signalling 4 Gene Is Mediated by the Hypoxia-Inducible Factor Pathway

Olechnowicz, S. W. Z., Fedele, A. O. & Peet, D. J., 7 Sep 2012, In : PloS one. 7, 9, e44564.

Research output: Contribution to journalArticle

13 Citations (Scopus)

Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene

Jolly, R. D., Hopwood, J. J., Marshall, N. R., Jenkins, K. S., Thompson, D. J., Dittmer, K. E., Thompson, J. C., Fedele, A. O., Raj, K. & Giger, U., 1 May 2012, In : New Zealand Veterinary Journal. 60, 3, p. 183-188 6 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes

De Cegli, R., Romito, A., Iacobacci, S., Mao, L., Lauria, M., Fedele, A. O., Klose, J., Borel, C., Descombes, P., Antonarakis, S. E., di Bernardo, D., Banfi, S., Ballabio, A. & Cobellis, G., 22 Jun 2010, In : Genome Biology. 11, 6, R64.

Research output: Contribution to journalArticle