Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function von Sitaram, Anand, Piccirillo, Rosanna, Palmisano, Ilaria, Harper, Dawn C, Dell'Angelica, Esteban C, Schiaffino, M Vittoria, Marks, Michael S

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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome von Bassi, Maria T, Schiaffino, M. Vittoria, Renieri, Alessandra, Nigris, Filomena De, Galli, Lucia, Bruttini, Mirella, Gebbia, Marinella, Bergen, Arthur A.B, Lewis, Richard A, Ballabio, Andrea

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A new standard nomenclature for proteins related to Apx and Shroom von Hagens, Olivier, Ballabio, Andrea, Kalscheuer, Vera, Kraehenbuhl, Jean-Pierre, Schiaffino, M Vittoria, Smith, Peter, Staub, Olivier, Hildebrand, Jeff, Wallingford, John B

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The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis von Schiaffino, M. Vittoria, Tacchetti, Carlo

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The Ocular Albinism Type 1 Gene Product is a Membrane Glycoprotein Localized to Melanosomes von Schiaffino, M. Vittoria, Baschirotto, Cinzia, Pellegrini, Graziella, Montalti, Simona, Tacchetti, Carlo, De Luca, Michele, Ballabio, Andrea

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Ocular albinism: evidence for a defect in an intracellular signal transduction system von Schiaffino, M. Vittoria, d'Addio, Marilena, Alloni, Anna, Baschirotto, Cinzia, Valetti, Caterina, Cortese, Katia, Puri, Claudia, Bassi, M. Teresa, Colla, Cristina, De Luca, Michele, Tacchetti, Carlo, Ballabio, Andrea

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Localization of a gene for partial epilepsy to chromosome 10q von Ottman, Ruth, Lustenberger, Anita, Wilhelmsen, Kirk C, Pedley, Timothy A, Neystat, Michael, Lee, Joseph H, Lee, Kyusang S, Nagle, Keith J, Hauser, W. Allen, Scheuer, Mark L, Barker-Cummings, Christie, Susser, Mervyn, Risch, Neil

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Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America von BASSI, M. Teresa, BERGEN, Arthur A. B, MESSIAEN, Ludwine, RAMESAR, Rajkumar S, BALLABIO, Andrea, SCHIAFFINO, M. Vittoria, BITOUN, Pierre, CHARLES, Stephen J, CLEMENTI, Maurizio, GOSSELIN, Richard, HURST, Jane, LEWIS, Richard Alan, LORENZ, Birgit, MEITINGER, Thomas

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Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism von Schiaffino, M.Vittoria, Bassi, Maria T., Galli, Lucia, Renieri, Alessandra, Bruttini, Mirella, Nigris, Filomena De, Bergen, Arthur A.B., Charles, Stephen J., Yates, John R.W., Meindl, Alfons, Lewis, Richard A., King, Richard A., Ballabio, Andrea

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Cloning of a human homologue of the Xenopus Iaevis APX gene from the ocular albinism type 1 critical region von Schiaffino, M.Vittoria, Bassi, Maria T., Rugarli, Elena I., Renieri, Alessandra, Galli, Lucia, Ballabio, Andrea

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A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22 von Wapenaar, Martin C., Schiaffino, M.Vittoria, Bassi, Maria T., Schaefer, Laura, Chinault, A.Craig, Zoghbi, Huda Y., Ballabio, Andrea

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Repeated transmission of x-linked ocular albinism type 1 by a carrier oocyte donor von Burns, William N, Schiaffino, M.Vittoria, Lewis, Richard Alan

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Amino acid deprivation triggers a novel GCN2-independent response leading to the transcriptional reactivation of non-native DNA sequences von De Vito, Annarosaria, Lazzaro, Massimo, Palmisano, Ilaria, Cittaro, Davide, Riba, Michela, Lazarevic, Dejan, Bannai, Makoto, Gabellini, Davide, Schiaffino, Maria Vittoria

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NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism von Allouche, Jennifer, Rachmin, Inbal, Adhikari, Kaustubh, Pardo, Luba M., Lee, Ju Hee, McConnell, Alicia M., Kato, Shinichiro, Fan, Shaohua, Kawakami, Akinori, Suita, Yusuke, Wakamatsu, Kazumasa, Igras, Vivien, Zhang, Jianming, Navarro, Paula P., Lugo, Camila Makhlouta, Noonan, Haley R., Christie, Kathleen A., Itin, Kaspar, Mujahid, Nisma, Lo, Jennifer A., Won, Chong Hyun, Evans, Conor L., Weng, Qing Yu, Wang, Hequn, Osseiran, Sam, Lovas, Alyssa, Németh, István, Cozzio, Antonio, Navarini, Alexander A., Hsiao, Jennifer J., Nguyen, Nhu, Kemény, Lajos V., Iliopoulos, Othon, Berking, Carola, Ruzicka, Thomas, Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Acuna-Alonso, Victor, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Ito, Shosuke, Schiaffino, Maria Vittoria, Chao, Luke H., Kleinstiver, Benjamin P., Tishkoff, Sarah, Zon, Leonard I., Nijsten, Tamar, Ruiz-Linares, Andrés, Fisher, David E., Roider, Elisabeth

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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells von Palmisano, Ilaria, Bagnato, Paola, Palmigiano, Angela, Innamorati, Giulio, Rotondo, Giuseppe, Altimare, Domenico, Venturi, Consuelo, Sviderskaya, Elena V., Piccirillo, Rosanna, Coppola, Massimiliano, Marigo, Valeria, Incerti, Barbara, Ballabio, Andrea, Surace, Enrico M., Tacchetti, Carlo, Bennett, Dorothy C., Schiaffino, Maria Vittoria

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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells von Palmisano, Ilaria, Bagnato, Paola, Palmigiano, Angela, Innamorati, Giulio, Rotondo, Giuseppe, Altimare, Domenico, Venturi, Consuelo, Sviderskaya, Elena V, Piccirillo, Rosanna, Coppola, Massimiliano, Marigo, Valeria, Incerti, Barbara, Ballabio, Andrea, Surace, Enrico M, Tacchetti, Carlo, Bennett, Dorothy C, Schiaffino, Maria Vittoria

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Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1 von D'ADDIO, Marilena, PIZZIGONI, Alessandro, BASSI, Maria Teresa, BASCHIROTTO, Cinzia, VALETTI, Caterina, INCERTI, Barbara, CLEMENTI, Maurizio, DE LUCA, Michele, BALLABIO, Andrea, SCHIAFFINO, Maria Vittoria

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Gene transfer in regenerating muscle von Vitadello, M, Schiaffino, M V, Picard, A, Scarpa, M, Schiaffino, S

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Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1 von INCERTI, Barbara, CORTESE, Katia, MARIGO, Valeria, SCHIAFFINO, Maria Vittoria, TACCHETTI, Carlo, BALLABIO, Andrea, PIZZIGNOI, Alessandro, SURACE, Enrico M, VARANI, Simona, COPPOLA, Massimiliano, JEFFERY, Glen, SEELIGER, Mathias, JAISSLE, Gesine, BENNETT, Dorothy C

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Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes von SCHIAFFINO, Maria Vittoria, DELLAMBRA, Elena, CORTESE, Katia, BASCHIROTTO, Cinzia, BONDANZA, Sergio, CLEMENTI, Maurizio, NUCCI, Paolo, BALLABIO, Andrea, TACCHETTI, Carlo, DE LUCA, Michele

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