Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis Patients
Caciotti, Anna, Donati, Maria Alice, Bardelli, Tiziana, d'Azzo, Alessandra, Massai, Graziella, Luciani, Luciana, Zammarchi, Enrico, Morrone, Amelia
Published in The American journal of pathology (01.12.2005)
Published in The American journal of pathology (01.12.2005)
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Journal Article
Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis
Caciotti, Anna, Donati, Maria Alice, Boneh, Avihu, d'Azzo, Alessandra, Federico, Antonio, Parini, Rossella, Antuzzi, Danielas, Bardelli, Tiziana, Nosi, Daniele, Kimonis, Virginia, Zammarchi, Enrico, Morrone, Amelia
Published in Human mutation (01.03.2005)
Published in Human mutation (01.03.2005)
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Journal Article
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the β-galactosidase/neuraminidase complex and the EBP-receptor
Malvagia, Sabrina, Morrone, Amelia, Caciotti, Anna, Bardelli, Tiziana, d’Azzo, Alessandra, Ancora, Gina, Zammarchi, Enrico, Donati, Maria Alice
Published in Molecular genetics and metabolism (01.05.2004)
Published in Molecular genetics and metabolism (01.05.2004)
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Journal Article
Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from G M1-Gangliosidosis Patients
Caciotti, Anna, Donati, Maria Alice, Bardelli, Tiziana, d'Azzo, Alessandra, Massai, Graziella, Luciani, Luciana, Zammarchi, Enrico, Morrone, Amelia
Published in The American journal of pathology (2005)
Published in The American journal of pathology (2005)
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Journal Article
Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis
Caciotti, Anna, Donati, Maria Alice, Boneh, Avihu, d'Azzo, Alessandra, Federico, Antonio, Parini, Rossella, Antuzzi, Danielas, Bardelli, Tiziana, Nosi, Daniele, Kimonis, Virginia, Zammarchi, Enrico, Morrone, Amelia
Published in Human mutation (01.03.2005)
Published in Human mutation (01.03.2005)
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Journal Article
Role of beta -galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G sub(M1)-gangliosidosis
Caciotti, Anna, Donati, Maria Alice, Boneh, Avihu, D'Azzo, Alessandra, Federico, Antonio, Parini, Rossella, Antuzzi, Danielas, Bardelli, Tiziana, Nosi, Daniele, Kimonis, Virginia, Zammarchi, Enrico, Morrone, Amelia
Published in Human mutation (01.01.2005)
Published in Human mutation (01.01.2005)
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Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: Identification of novel mutations
Giorgi, Massimo, Morrone, Amelia, Donati, M. Alice, Ciani, Federica, Bardelli, Tiziana, Biasucci, Giacomo, Zammarchi, Enrico
Published in Human mutation (01.04.2000)
Published in Human mutation (01.04.2000)
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