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Nagamori, Shushi, Wiriyasermkul, Pattama, Guarch, Meritxell Espino, Okuyama, Hirohisa, Nakagomi, Saya, Tadagaki, Kenjiro, Nishinaka, Yumiko, Bodoy, Susanna, Takafuji, Kazuaki, Okuda, Suguru, Kurokawa, Junko, Ohgaki, Ryuichi, Nunes, Virginia, Palacín, Manuel, Kanai, Yoshikatsu
Published in Proceedings of the National Academy of Sciences - PNAS (19.01.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (19.01.2016)
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Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss
Espino Guarch, Meritxell, Font-Llitjós, Mariona, Murillo-Cuesta, Silvia, Errasti-Murugarren, Ekaitz, Celaya, Adelaida M, Girotto, Giorgia, Vuckovic, Dragana, Mezzavilla, Massimo, Vilches, Clara, Bodoy, Susanna, Sahún, Ignasi, González, Laura, Prat, Esther, Zorzano, Antonio, Dierssen, Mara, Varela-Nieto, Isabel, Gasparini, Paolo, Palacín, Manuel, Nunes, Virginia
Published in eLife (22.01.2018)
Published in eLife (22.01.2018)
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Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease
Bodoy, Susanna, Sotillo, Fernando, Espino-Guarch, Meritxell, Sperandeo, Maria Pia, Ormazabal, Aida, Zorzano, Antonio, Sebastio, Gianfranco, Artuch, Rafael, Palacín, Manuel
Published in International journal of molecular sciences (24.10.2019)
Published in International journal of molecular sciences (24.10.2019)
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Identification of LAT4, a Novel Amino Acid Transporter with System L Activity
Bodoy, Susanna, Martín, Lorena, Zorzano, Antonio, Palacín, Manuel, Estévez, Raúl, Bertran, Joan
Published in The Journal of biological chemistry (25.03.2005)
Published in The Journal of biological chemistry (25.03.2005)
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Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids
Vilches, Clara, Boiadjieva-Knöpfel, Emilia, Bodoy, Susanna, Camargo, Simone, López de Heredia, Miguel, Prat, Esther, Ormazabal, Aida, Artuch, Rafael, Zorzano, Antonio, Verrey, François, Nunes, Virginia, Palacín, Manuel
Published in Journal of the American Society of Nephrology (01.06.2018)
Published in Journal of the American Society of Nephrology (01.06.2018)
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Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients
García-Cazorla, Angels, Oyarzabal, Alfonso, Fort, Joana, Robles, Concepción, Castejón, Esperanza, Ruiz-Sala, Pedro, Bodoy, Susanna, Merinero, Begoña, Lopez-Sala, Anna, Dopazo, Joaquín, Nunes, Virginia, Ugarte, Magdalena, Artuch, Rafael, Palacín, Manuel, Rodríguez-Pombo, Pilar, Alcaide, Patricia, Navarrete, Rosa, Sanz, Paloma, Font-Llitjós, Mariona, Vilaseca, Ma Antonia, Ormaizabal, Aida, Pristoupilova, Anna, Agulló, Sergi Beltran
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Luque, Juan, Webb, Susan M., Aguado, Carmen, Almoguera, Berta, Arjona, Emi, Masó, Anna Aulinas, Badell, Isabel, Baiget, Montserrat, Benito Sanz, Sara, Borralleras, Cristina, Borrego, Salud, Bou de Pieri, Francesc, Cámara, Yolanda, Camats‐Tarruella, Núria, Cantarero, Lara, Caparrós‐Martín, JoséAntonio, Casado, Mercedes, Cascón, Alberto, Catala, Albert, Cediel, Rafael, Cervera, Javier, Contreras, Julio, Cormand, Bru, Corral, Javier, Corton, Marta, Costa‐Roger, Mar, Crispi, Fátima, Cuezva, JoséM., Dalmau, Josep, Luna, Susana, del Castillo, Ignacio, Del Pozo, Ángela, del Río, Marcela, Escámez, María José, Fernández‐Cancio, Mónica, Fernández‐San Jose, Patricia, Gallardo, Eduard, García‐Redondo, Alberto, Teresa García‐Silva, M., García‐Villoria, Judit, García Santiago, Fe, Garrido, Gema, Giroud‐Gerbetant, Judith, Gonzalez‐Cabo, Pilar, Gonzalez‐Casacuberta, Ingrid, González‐Quintana, Adrián, Gort, Laura, Herreras, Enrique, Jimenez‐Mallebrera, Cecilia, Luz Juarez‐Flores, Diana, Lapunzina, Pablo, López‐Laso, Eduardo, López de Heredia, Miguel, Lorda‐Sanchez, Isabel, Luque, Juan, Marfany, Gemma, Martí, Ramón, Martin, Yolanda, Martin‐Merida, Inmaculada, Martinez‐Delgado, Beatriz, Carmen Martínez‐Romero, María, Millán, JoséM., Molla, Belén, Moltó, Eduardo, Montero, Raquel, Montoliu, Lluis, Moreno, JoséCarlos, A Mori, María, Morte, Beatriz, Muñoz‐Pujol, Gerard, Murillo‐Cuesta, Silvia, Navarro, Susana, Navas, Plácido, Ángela Nieto, M., O′Callaghan, Mar, Olavarrieta, Leticia, Ormazabal, Aida, Ortiz‐Romero, Paula, Osorio, Ana, Palencia‐Campos, Adrián, Pie, Juan, Pinto, Sheila, Ranea, Juan A.G., Reina‐Castillón, Judith, Robledo, Mercedes, Carlos Rodriguez‐Aguilera, Juan, Rodríguez‐Palmero, Agustí, Romá‐Mateo, Carlos, Ruiz, Montserrat, Ruiz‐Arenas, Carlos, Santacatterina, Fulvio, Santamarina, Marta, Santos‐Ocaña, Carlos, Santos Simarro, Fernando, Schlüter, Agatha, Tizzano, Eduardo, Tort, Frederic, Vega, Ana, Vélez‐Santamaria, Valentina, Vílchez, Juan J.
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis and iron homeostasis
Giroud-Gerbetant, Judith, Sotillo, Fernando, Gonzalo Hernandez Viedma, Lynch, Cian, Ruano, Irene, Siri, Barbara, Sebastian, David, Zorzano, Antonio, Artuch, Rafael, Ormazabal, Aida, Sanchez, Mayka, Weiss, Günter, Prats, Neus, Dionisi-Vici, Carlo, Serrano, Manuel, Palacin, Manuel, Bodoy, Susanna
Published in bioRxiv (03.03.2023)
Published in bioRxiv (03.03.2023)
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Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in Age-Related Hearing Loss
Espino Gaurch, Meritxell, Font i Llitjós, Mariona, Murillo-Cuesta, Silvia, Errasti-Murugarren, Ekaitz, Celaya, Adelaida M, Girotto, Giorgia, Vuckovic, Dragana, Mezzavilla, Massimo, Vilches, Clara, Bodoy i Salvans, Susanna, Sahún, Ignasi, González, Laura, Prat, Esther, Zorzano Olarte, Antonio, Dierssen, Mara, Varela-Nieto, Isabel, Gasparini, Paolo, Palacín Prieto, Manuel, Nunes Martínez, Virginia
Published in eLife (22.01.2018)
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Published in eLife (22.01.2018)
Journal Article
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in Age-Related Hearing Loss
Espino Gaurch, Meritxell, Font i Llitjós, Mariona, Murillo-Cuesta, Silvia, Errasti-Murugarren, Ekaitz, Celaya, Adelaida M, Girotto, Giorgia, Vuckovic, Dragana, Mezzavilla, Massimo, Vilches, Clara, Bodoy i Salvans, Susanna, Sahún, Ignasi, González, Laura, Prat, Esther, Zorzano Olarte, Antonio, Dierssen, Mara, Varela-Nieto, Isabel, Gasparini, Paolo, Palacín Prieto, Manuel, Nunes Martínez, Virginia
Published in eLife (22.01.2018)
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Published in eLife (22.01.2018)
Journal Article
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in Age-Related Hearing Loss
Espino Gaurch, Meritxell, Font i Llitjós, Mariona, Murillo-Cuesta, Silvia, Errasti-Murugarren, Ekaitz, Celaya, Adelaida M, Girotto, Giorgia, Vuckovic, Dragana, Mezzavilla, Massimo, Vilches, Clara, Bodoy i Salvans, Susanna, Sahún, Ignasi, González, Laura, Prat, Esther, Zorzano Olarte, Antonio, Dierssen, Mara, Varela-Nieto, Isabel, Gasparini, Paolo, Palacín Prieto, Manuel, Nunes Martínez, Virginia
Published in eLife (22.01.2018)
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Published in eLife (22.01.2018)
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