The Phosphatase Ptc7 Induces Coenzyme Q Biosynthesis by Activating the Hydroxylase Coq7 in Yeast
Martín-Montalvo, Alejandro, González-Mariscal, Isabel, Pomares-Viciana, Teresa, Padilla-López, Sergio, Ballesteros, Manuel, Vazquez-Fonseca, Luis, Gandolfo, Pablo, Brautigan, David L., Navas, Placido, Santos-Ocaña, Carlos
Published in The Journal of biological chemistry (27.09.2013)
Published in The Journal of biological chemistry (27.09.2013)
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Genetic evidence for the requirement of the endocytic pathway in the uptake of coenzyme Q6 in Saccharomyces cerevisiae
Padilla-López, Sergio, Jiménez-Hidalgo, María, Martín-Montalvo, Alejandro, Clarke, Catherine F., Navas, Plácido, Santos-Ocaña, Carlos
Published in Biochimica et biophysica acta (01.06.2009)
Published in Biochimica et biophysica acta (01.06.2009)
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AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders
Lewis, Sara A, Bakhtiari, Somayeh, Forstrom, Jacob, Bayat, Allan, Bilan, Frédéric, Le Guyader, Gwenaël, Alkhunaizi, Ebba, Vernon, Hilary, Padilla-Lopez, Sergio R, Kruer, Michael C
Published in Disease models & mechanisms (01.09.2023)
Published in Disease models & mechanisms (01.09.2023)
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca
Published in Nature communications (21.10.2019)
Published in Nature communications (21.10.2019)
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Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death
Cao, Siqi, Smith, Laura L, Padilla-Lopez, Sergio R, Guida, Brandon S, Blume, Elizabeth, Shi, Jiahai, Morton, Sarah U, Brownstein, Catherine A, Beggs, Alan H, Kruer, Michael C, Agrawal, Pankaj B
Published in Human molecular genetics (15.09.2017)
Published in Human molecular genetics (15.09.2017)
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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy
Carvill, Gemma L., Helbig, Katherine L., Myers, Candace T., Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N., Guida, Brandon S., Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A., Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O., Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G., Caruso, Paul A., Lin, Angela E., Jansen, Floor E., Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H., Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie‐Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E., Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla‐Lopez, Sergio, Mefford, Heather C., Kruer, Michael C.
Published in Human mutation (01.07.2020)
Published in Human mutation (01.07.2020)
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Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia
Feyma, Timothy, Ramsey, Keri, Huentelman, Matthew J., Craig, David W., Padilla-Lopez, Sergio, Narayanan, Vinodh, Kruer, Michael C.
Published in Movement disorders (01.11.2016)
Published in Movement disorders (01.11.2016)
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New models for wild ungulates occurrence and hunting yield abundance at European scale
Illanas, Sonia, Croft, Simon, Smith, Graham C., López‐Padilla, Sergio, Vicente, Joaquín, Blanco‐Aguiar, José Antonio, Scandura, Massimo, Apollonio, Marco, Ferroglio, Ezio, Zanet, Stefania, Vada, Rachele, Keuling, Oliver, Plis, Kamila, Podgorski, Tomasz, Brivio, Francesca, Fernández‐López, Javier, Ruiz‐Rodríguez, Carmen, Soriguer, Ramón C., Acevedo, Pelayo
Published in EFSA supporting publications (01.10.2022)
Published in EFSA supporting publications (01.10.2022)
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Wild carnivore occurrence and models of hunting yield abundance at European scale: first models for red fox and badger
Illanas, Sonia, Croft, Simon, Smith, Graham C., Vicente, Joaquín, Blanco‐Aguiar, José Antonio, Scandura, Massimo, Apollonio, Marco, Ferroglio, Ezio, Keuling, Oliver, Plis, Kamila, Csányi, Sándor, Gómez‐Molina, Azahara, Preite, Ludovica, Ruiz‐Rodríguez, Carmen, López‐Padilla, Sergio, Zanet, Stefania, Vada, Rachele, Podgorski, Tomasz, Brivio, Francesca, Fernández‐López, Javier, Soriguer, Ramón C., Acevedo, Pelayo
Published in EFSA supporting publications (01.02.2023)
Published in EFSA supporting publications (01.02.2023)
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Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability
Lewis, Sara A, Bakhtiari, Somayeh, Heim, Jennifer, Cornejo, Patricia, Liu, James, Huang, Aris, Musmacker, Andrew, Jin, Sheng Chih, Bilguvar, Kaya, Padilla-Lopez, Sergio R, Kruer, Michael C
Published in Neurology. Genetics (01.08.2021)
Published in Neurology. Genetics (01.08.2021)
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Nitric oxide signaling is disrupted in the yeast model for Batten disease
Osório, Nuno S., Carvalho, Agostinho, Almeida, Agostinho J., Padilla-Lopez, Sérgio, Leão, Cecília, Laranjinha, João, Ludovico, Paula, Pearce, David A., Rodrigues, Fernando
Published in Molecular biology of the cell (01.07.2007)
Published in Molecular biology of the cell (01.07.2007)
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Eritema pernio. Perniosis
López Padilla, Sergio Oswaldo, Domínguez Carrillo, Luis Gerardo
Published in Atención familiar (10.12.2019)
Published in Atención familiar (10.12.2019)
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pH-dependent localization of Btn1p in the yeast model for Batten disease
Wolfe, Devin M, Padilla-Lopez, Sergio, Vitiello, Seasson Phillips, Pearce, David A
Published in Disease models & mechanisms (01.01.2011)
Published in Disease models & mechanisms (01.01.2011)
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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Jin, Sheng Chih, Lewis, Sara A., Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C., Shetty, Sheetal, Nordlie, Sandra M., Elie, Aureliane, Corbett, Mark A., Norton, Bethany Y., van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S., Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P., Gecz, Jozef, MacLennan, Alastair H., Kruer, Michael C.
Published in Nature genetics (01.10.2020)
Published in Nature genetics (01.10.2020)
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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse
Published in European journal of human genetics : EJHG (01.09.2024)
Published in European journal of human genetics : EJHG (01.09.2024)
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Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
Alstrup, Morten, Cesca, Fabrizia, Krawczun-Rygmaczewska, Alicja, López-Menéndez, Celia, Pose-Utrilla, Julia, Castberg, Filip Christian, Bjerager, Mia Ortved, Finnila, Candice, Kruer, Michael C., Bakhtiari, Somayeh, Padilla-Lopez, Sergio, Manwaring, Linda, Keren, Boris, Afenjar, Alexandra, Galatolo, Daniele, Scalise, Roberta, Santorelli, Fillippo M., Shillington, Amelle, Vezain, Myriam, Martinovic, Jelena, Stevens, Cathy, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Thiffault, Isabelle, Pastinen, Tomi, Baranano, Kristin, Lee, Angela, Granadillo, Jorge, Glassford, Megan R., Keegan, Catherine E., Matthews, Nicole, Saugier-Veber, Pascale, Iglesias, Teresa, Østergaard, Elsebet
Published in Genetics in medicine (01.11.2024)
Published in Genetics in medicine (01.11.2024)
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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
Almousa, Hashem, Lewis, Sara A, Bakhtiari, Somayeh, Nordlie, Sandra Hinz, Pagnozzi, Alex, Magee, Helen, Efthymiou, Stephanie, Heim, Jennifer A, Cornejo, Patricia, Zaki, Maha S, Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Neilson, Derek E, Vemuri, Anusha, Jin, Sheng Chih, Yang, Xiao-Ru, Heidari, Abolfazl, van Gassen, Koen, Trimouille, Aurélien, Thauvin-Robinet, Christel, Liu, James, Bruel, Ange-Line, Tomoum, Hoda, Shata, Mennatallah O, Hashem, Mais O, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Yeşil, Gözde, Lingappa, Lokesh, Baruah, Debangana, Ebrahimzadeh, Farnoosh, Van-Gils, Julien, Faivre, Laurence, Zamani, Mina, Galehdari, Hamid, Sadeghian, Saeid, Shariati, Gholamreza, Mohammad, Rahema, van der Smagt, Jasper, Qari, Alya, Vincent, John B, Innes, A Micheil, Dursun, Ali, Özgül, R Köksal, Akar, Halil Tuna, Bilguvar, Kaya, Mignot, Cyril, Keren, Boris, Raveli, Claudia, Burglen, Lydie, Afenjar, Alexandra, Kaat, Laura Donker, van Slegtenhorst, Marjon, Alkuraya, Fowzan, Houlden, Henry, Padilla-Lopez, Sergio, Maroofian, Reza, Sacher, Michael, Kruer, Michael C
Published in Brain (London, England : 1878) (04.01.2024)
Published in Brain (London, England : 1878) (04.01.2024)
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Richard, Elodie M., Bakhtiari, Somayeh, Marsh, Ashley P.L., Kaiyrzhanov, Rauan, Wagner, Matias, Shetty, Sheetal, Pagnozzi, Alex, Nordlie, Sandra M., Cornejo, Patricia, Magee, Helen, Liu, James, Norton, Bethany Y., Webster, Richard I., Hakonarson, Hakon, Li, Jiankang, Guo, Yiran, Jain, Mahim, Blesson, Alyssa, Rodan, Lance H., Abbott, Mary-Alice, Comi, Anne, Cohen, Julie S., Alhaddad, Bader, Meitinger, Thomas, Lenz, Dominic, Ziegler, Andreas, Kotzaeridou, Urania, Brunet, Theresa, Chassevent, Anna, Smith-Hicks, Constance, Ekstein, Joseph, Weiden, Tzvi, Hahn, Andreas, Zharkinbekova, Nazira, Turnpenny, Peter, Tucci, Arianna, Yelton, Melissa, Horvath, Rita, Gungor, Serdal, Hiz, Semra, Oktay, Yavuz, Lochmuller, Hanns, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Amenta, Simona, Husain, Ralf A., Grossmann, Benita, Rapp, Marion, Steen, Claudia, Marquardt, Iris, Grimmel, Mona, Grasshoff, Ute, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Radio, Francesca Clementina, Mancini, Cecilia, Claps Sepulveda, Dianela Judith, McWalter, Kirsty, Begtrup, Amber, Crunk, Amy, Guillen Sacoto, Maria J., Schnur, Rhonda E., Mancardi, Maria Margherita, Kreuder, Florian, Striano, Pasquale, Zara, Federico, Chung, Wendy K., Marks, Warren A., van Eyk, Clare L., Webber, Dani L., Corbett, Mark A., Harper, Kelly, Berry, Jesia G., MacLennan, Alastair H., Gecz, Jozef, Tartaglia, Marco, Salpietro, Vincenzo, Christodoulou, John, Kaslin, Jan, Padilla-Lopez, Sergio, Bilguvar, Kaya, Munchau, Alexander, Ahmed, Zubair M., Hufnagel, Robert B., Fahey, Michael C., Maroofian, Reza, Houlden, Henry, Mane, Shrikant M., Rad, Aboulfazl, Jin, Sheng Chih, Haack, Tobias B., Makowski, Christine, Hirsch, Yoel, Riazuddin, Saima, Kruer, Michael C.
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
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