Anthony Fedele

Dr

  • 390 Citations
  • 8 h-Index
20022019
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Research Output 2002 2019

  • 390 Citations
  • 8 h-Index
  • 9 Article
  • 2 Review article
2019

A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells

De Cegli, R., Iacobacci, S., Fedele, A., Ballabio, A. & di Bernardo, D., 6 Nov 2019, In : Scientific Data. 6, 1, 1 p., 262.

Research output: Contribution to journalArticle

2018
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

2015
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

2012
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

2010
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

10 Citations (Scopus)

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Fedele, A. O. & Hopwood, J. J., 1 Jul 2010, In : Human Mutation. 31, 7

Research output: Contribution to journalArticle

114 Citations (Scopus)

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

Fraldi, A., Annunziata, F., Lombardi, A., Kaiser, H. J., Medina, D. L., Spampanato, C., Fedele, A., Polishchuk, R., Sorrentino, N. C., Simons, K. & Ballabio, A., 3 Nov 2010, In : EMBO Journal. 29, 21, p. 3607-3620 14 p.

Research output: Contribution to journalArticle

2007
22 Citations (Scopus)

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

Fedele, A., Filocamo, M., Di Rocco, M., Sersale, G., Lübke, T., di Natale, P., Cosma, M. P. & Ballabio, A., 1 Jan 2007, In : Human Mutation. 28, 5, 1 p.

Research output: Contribution to journalArticle

2006
120 Citations (Scopus)

Cell-specific regulation of hypoxia-inducible factor (HIF)-1α and HIF-2α stabilization and transactivation in a graded oxygen environment

Bracken, C. P., Fedele, A. O., Linke, S., Balrak, W., Lisy, K., Whitelaw, M. L. & Peet, D. J., 11 Aug 2006, In : Journal of Biological Chemistry. 281, 32, p. 22575-22585 11 p.

Research output: Contribution to journalArticle

2002
62 Citations (Scopus)

Regulation of gene expression by the hypoxia-inducible factors.

Fedele, A. O., Whitelaw, M. L. & Peet, D. J., 1 Jan 2002, In : Molecular interventions. 2, 4, p. 229-243 15 p.

Research output: Contribution to journalReview article