BALLABIO, ANDREA
BALLABIO, ANDREA
Dipartimento di Scienze mediche traslazionali
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.
2004 Ferreirinha, F; Quattrini, A; Pirozzi, M; Valsecchi, V; Dina, G; Broccoli, V; Piemonte, F; Tozzi, G; Gaeta, L; Casari, G; Ballabio, Andrea; AND RUGARLI, E. I.
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency.
1987 Parenti, Giancarlo; Ballabio, Andrea; Hoogeveen, At; Van der Loos, Cm; Jobsis, Ac; Andria, Generoso
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders
2009 Ballabio, Andrea
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
1987 Ballabio, Andrea; Sebastio, Gianfranco; Carrozzo, R; Parenti, Giancarlo; Piccirillo, A; Persico, Mg; Andria, Generoso
X/Y translocation in a family with X-linked ichthyosis,chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
1988 Ballabio, Andrea; Parenti, Giancarlo; Carrozzo, R; Coppa, G; Felici, L; Migliori, V; Silengo, M; Franceschini, P; Andria, Generoso
Contiguous gene syndromes due todeletions in the distal short arm of the human X chromosome.
1989 Ballabio, Andrea; Bardoni, B; Carrozzo, R; Andria, Generoso; Bick, D; Campbell, L; Hamel, B; Ferguson Smith, Ma; Gimelli, G; Fraccaro, M.
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.
1991 Ballabio, Andrea; Zollo, Massimo; Carrozzo, R; Caiulo, A; Zuffardi, O; Cascioli, Cf; Viggiano, D; Strisciuglio, Pietro
Lysosomal enhancement: a CLEAR answer to cellular degradative needs
2009 Sardiello, M.; Ballabio, Andrea
Lysosomal disorders: From storage to cellular damage
2009 Ballabio, Andrea; Gieselmann, V.
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
2008 Yiş, U.; Pepe, S.; Kurul, S. H.; Ballabio, Andrea; Cosma, M. P.; Dirik, E.
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition
2010 Luciani, A; Villella, Vr; Esposito, S; BRUNETTI PIERRI, Nicola; Medina, D; Settembre, Carmine; Gavina, M; Pulze, L; Giardino, I; Pettoello Mantovani, M; D'Apolito, M; Guido, Stefano; Masliah, E; Spencer, B; Quaratino, S; Raia, Valeria; Ballabio, Andrea; Maiuri, L.
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.
1991 Franco, Brunella; Guioli, S; Pragliola, A; Incerti, B; Bardoni, B; Tonlorenzi, R; Carrozzo, R; Maestrini, E; Pieretti, M; Taillon Miller, P; Brown, Cj; Willard, Hf; Lawrence, C; Graziella Persico, M; Camerino, G; Ballabio, Andrea
PCR test for cystic fibrosis deletion.
1990 Ballabio, Andrea; Gibbs, R. A.; Caskey, C. T.
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome.
1991 Brown, Cj; Ballabio, Andrea; Rupert, Jl; Lafreniere, Rg; Grompe, M; Tonlorenzi, R; Willard, Hf
Characterization of a murine gene expressed from the inactive X chromosome.
1991 Borsani, G; Tonlorenzi, R; Simmler, Mc; Dandolo, L; Arnaud, D; Capra, V; Grompe, M; Pizzuti, A; Muzny, D; Lawrence, C; Willard, Hf; Avner, P; Ballabio, Andrea
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.
1987 Ballabio, Andrea; Parenti, G; Carrozzo, R; Sebastio, G; Andria, G; Buckle, V; Fraser, N; Craig, I; Rocchi, M; Romeo, G.
A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells.
1998 Petrella, A; Doti, I; Agosti, V; CARANDENTE GIARRUSSO, P; Vitale, D; Bond, H. M.; Cuomo, C; Barbieri, V; Franco, Brunella; Ballabio, Andrea; Venuta, S; Morrone, G.
Tagging genes with cassette-exchange sites.
2005 Cobellis, G.; Nicolaus, G.; Iovino, M.; Romito, A.; Marra, E.; Barbarisi, M.; Sardiello, M.; DI GIORGIO, F. P.; Iovini, N.; Zollo, Massimo; Ballabio, Andrea; Cortese, R.
Deletions and translocations involving the distalshort arm of the human X chromosome: review and hypotheses
1992 Ballabio, Andrea; Andria, Generoso
Molecular and Biochemical Characterization of a Novel Sulfatase Gene: Arylsulfatase G (ARSG).
2002 Ferrante, P; Messali, S; Ballabio, Andrea
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. | 1.1 Articolo in rivista | 2004 | Ferreirinha, F; Quattrini, A; Pirozzi, M; Valsecchi, V; Dina, G; Broccoli, V; Piemonte, F; Tozzi, G; Gaeta, L; Casari, G; Ballabio, Andrea; AND RUGARLI, E. I. | |
| Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. | 1.1 Articolo in rivista | 1987 | Parenti, Giancarlo; Ballabio, Andrea; Hoogeveen, At; Van der Loos, Cm; Jobsis, Ac; Andria, Generoso | |
| Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders | 1.1 Articolo in rivista | 2009 | Ballabio, Andrea | |
| Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome | 1.1 Articolo in rivista | 1987 | Ballabio, Andrea; Sebastio, Gianfranco; Carrozzo, R; Parenti, Giancarlo; Piccirillo, A; Persico, Mg; Andria, Generoso | |
| X/Y translocation in a family with X-linked ichthyosis,chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. | 1.1 Articolo in rivista | 1988 | Ballabio, Andrea; Parenti, Giancarlo; Carrozzo, R; Coppa, G; Felici, L; Migliori, V; Silengo, M; Franceschini, P; Andria, Generoso | |
| Contiguous gene syndromes due todeletions in the distal short arm of the human X chromosome. | 1.1 Articolo in rivista | 1989 | Ballabio, Andrea; Bardoni, B; Carrozzo, R; Andria, Generoso; Bick, D; Campbell, L; Hamel, B; Ferguson Smith, Ma; Gimelli, G; Fraccaro, M. | |
| Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. | 1.1 Articolo in rivista | 1991 | Ballabio, Andrea; Zollo, Massimo; Carrozzo, R; Caiulo, A; Zuffardi, O; Cascioli, Cf; Viggiano, D; Strisciuglio, Pietro | |
| Lysosomal enhancement: a CLEAR answer to cellular degradative needs | 1.1 Articolo in rivista | 2009 | Sardiello, M.; Ballabio, Andrea | |
| Lysosomal disorders: From storage to cellular damage | 1.1 Articolo in rivista | 2009 | Ballabio, Andrea; Gieselmann, V. | |
| Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. | 1.1 Articolo in rivista | 2008 | Yiş, U.; Pepe, S.; Kurul, S. H.; Ballabio, Andrea; Cosma, M. P.; Dirik, E. | |
| Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition | 1.1 Articolo in rivista | 2010 | Luciani, A; Villella, Vr; Esposito, S; BRUNETTI PIERRI, Nicola; Medina, D; Settembre, Carmine; Gavina, M; Pulze, L; Giardino, I; Pettoello Mantovani, M; D'Apolito, M; Guido, Stefano; Masliah, E; Spencer, B; Quaratino, S; Raia, Valeria; Ballabio, Andrea; Maiuri, L. | |
| A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. | 1.1 Articolo in rivista | 1991 | Franco, Brunella; Guioli, S; Pragliola, A; Incerti, B; Bardoni, B; Tonlorenzi, R; Carrozzo, R; Maestrini, E; Pieretti, M; Taillon Miller, P; Brown, Cj; Willard, Hf; Lawrence, C; Graziella Persico, M; Camerino, G; Ballabio, Andrea | |
| PCR test for cystic fibrosis deletion. | 1.1 Articolo in rivista | 1990 | Ballabio, Andrea; Gibbs, R. A.; Caskey, C. T. | |
| A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. | 1.1 Articolo in rivista | 1991 | Brown, Cj; Ballabio, Andrea; Rupert, Jl; Lafreniere, Rg; Grompe, M; Tonlorenzi, R; Willard, Hf | |
| Characterization of a murine gene expressed from the inactive X chromosome. | 1.1 Articolo in rivista | 1991 | Borsani, G; Tonlorenzi, R; Simmler, Mc; Dandolo, L; Arnaud, D; Capra, V; Grompe, M; Pizzuti, A; Muzny, D; Lawrence, C; Willard, Hf; Avner, P; Ballabio, Andrea | |
| Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. | 1.1 Articolo in rivista | 1987 | Ballabio, Andrea; Parenti, G; Carrozzo, R; Sebastio, G; Andria, G; Buckle, V; Fraser, N; Craig, I; Rocchi, M; Romeo, G. | |
| A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells. | 1.1 Articolo in rivista | 1998 | Petrella, A; Doti, I; Agosti, V; CARANDENTE GIARRUSSO, P; Vitale, D; Bond, H. M.; Cuomo, C; Barbieri, V; Franco, Brunella; Ballabio, Andrea; Venuta, S; Morrone, G. | |
| Tagging genes with cassette-exchange sites. | 1.1 Articolo in rivista | 2005 | Cobellis, G.; Nicolaus, G.; Iovino, M.; Romito, A.; Marra, E.; Barbarisi, M.; Sardiello, M.; DI GIORGIO, F. P.; Iovini, N.; Zollo, Massimo; Ballabio, Andrea; Cortese, R. | |
| Deletions and translocations involving the distalshort arm of the human X chromosome: review and hypotheses | 1.1 Articolo in rivista | 1992 | Ballabio, Andrea; Andria, Generoso | |
| Molecular and Biochemical Characterization of a Novel Sulfatase Gene: Arylsulfatase G (ARSG). | 1.1 Articolo in rivista | 2002 | Ferrante, P; Messali, S; Ballabio, Andrea |