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	1.	Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole. [electronic resource] by Padilla-López, Sergio Pearce, David A Producer: 20060605 In: The Journal of biological chemistry vol. 281 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Comment on "Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease". [electronic resource] by Pearce, David A Padilla-Lopez, Sergio Producer: 20110705 In: Molecular bioSystems vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution. [electronic resource] by Padilla-López, Sergio Langager, Deanna Chan, Chun-Hung Pearce, David A Producer: 20120711 In: Disease models & mechanisms vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	pH-dependent localization of Btn1p in the yeast model for Batten disease. [electronic resource] by Wolfe, Devin M Padilla-Lopez, Sergio Vitiello, Seasson Phillips Pearce, David A Producer: 20110406 In: Disease models & mechanisms vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease. [electronic resource] by Vitiello, Seasson Phillips Benedict, Jared W Padilla-Lopez, Sergio Pearce, David A Producer: 20100629 In: Human molecular genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Genetic evidence for the requirement of the endocytic pathway in the uptake of coenzyme Q6 in Saccharomyces cerevisiae. [electronic resource] by Padilla-López, Sergio Jiménez-Hidalgo, María Martín-Montalvo, Alejandro Clarke, Catherine F Navas, Plácido Santos-Ocaña, Carlos Producer: 20090729 In: Biochimica et biophysica acta vol. 1788 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia. [electronic resource] by Feyma, Timothy Ramsey, Keri Huentelman, Matthew J Craig, David W Padilla-Lopez, Sergio Narayanan, Vinodh Kruer, Michael C Producer: 20180501 In: Movement disorders : official journal of the Movement Disorder Society vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Nitric oxide signaling is disrupted in the yeast model for Batten disease. [electronic resource] by Osório, Nuno S Carvalho, Agostinho Almeida, Agostinho J Padilla-Lopez, Sérgio Leão, Cecília Laranjinha, João Ludovico, Paula Pearce, David A Rodrigues, Fernando Producer: 20070828 In: Molecular biology of the cell vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	The phosphatase Ptc7 induces coenzyme Q biosynthesis by activating the hydroxylase Coq7 in yeast. [electronic resource] by 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 Producer: 20131224 In: The Journal of biological chemistry vol. 288 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. [electronic resource] by 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 Producer: 20180118 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia. [electronic resource] by Masuho, Ikuo Fang, Mingyan Geng, Chunyu Zhang, Jianguo Jiang, Hui Özgul, Riza Köksal Yılmaz, Didem Yücel Yalnızoğlu, Dilek Yüksel, Deniz Yarrow, Anna Myers, Angela Burn, Sabrina C Crotwell, Patricia L Padilla-Lopez, Sergio Dursun, Ali Martemyanov, Kirill A Kruer, Michael C Producer: 20160525 In: Neurology. Genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. [electronic resource] by Madeo, Marianna Stewart, Michelle Sun, Yuyang Sahir, Nadia Wiethoff, Sarah Chandrasekar, Indra Yarrow, Anna Rosenfeld, Jill A Yang, Yaping Cordeiro, Dawn McCormick, Elizabeth M Muraresku, Colleen C Jepperson, Tyler N McBeth, Lauren J Seidahmed, Mohammed Zain El Khashab, Heba Y Hamad, Muddathir Azzedine, Hamid Clark, Karl Corrochano, Silvia Wells, Sara Elting, Mariet W Weiss, Marjan M Burn, Sabrina Myers, Angela Landsverk, Megan Crotwell, Patricia L Waisfisz, Quinten Wolf, Nicole I Nolan, Patrick M Padilla-Lopez, Sergio Houlden, Henry Lifton, Richard Mane, Shrikant Singh, Brij B Falk, Marni J Mercimek-Mahmutoglu, Saadet Bilguvar, Kaya Salih, Mustafa A Acevedo-Arozena, Abraham Kruer, Michael C Producer: 20170510 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. [electronic resource] by 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 Producer: 20211105 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. [electronic resource] by Helbig, Katherine L Lauerer, Robert J Bahr, Jacqueline C Souza, Ivana A Myers, Candace T Uysal, Betül Schwarz, Niklas Gandini, Maria A Huang, Sun Keren, Boris Mignot, Cyril Afenjar, Alexandra Billette de Villemeur, Thierry Héron, Delphine Nava, Caroline Valence, Stéphanie Buratti, Julien Fagerberg, Christina R Soerensen, Kristina P Kibaek, Maria Kamsteeg, Erik-Jan Koolen, David A Gunning, Boudewijn Schelhaas, H Jurgen Kruer, Michael C Fox, Jordana Bakhtiari, Somayeh Jarrar, Randa Padilla-Lopez, Sergio Lindstrom, Kristin Jin, Sheng Chih Zeng, Xue Bilguvar, Kaya Papavasileiou, Antigone Xing, Qinghe Zhu, Changlian Boysen, Katja Vairo, Filippo Lanpher, Brendan C Klee, Eric W Tillema, Jan-Mendelt Payne, Eric T Cousin, Margot A Kruisselbrink, Teresa M Wick, Myra J Baker, Joshua Haan, Eric Smith, Nicholas Sadeghpour, Azita Davis, Erica E Katsanis, Nicholas Corbett, Mark A MacLennan, Alastair H Gecz, Jozef Biskup, Saskia Goldmann, Eva Rodan, Lance H Kichula, Elizabeth Segal, Eric Jackson, Kelly E Asamoah, Alexander Dimmock, David McCarrier, Julie Botto, Lorenzo D Filloux, Francis Tvrdik, Tatiana Cascino, Gregory D Klingerman, Sherry Neumann, Catherine Wang, Raymond Jacobsen, Jessie C Nolan, Melinda A Snell, Russell G Lehnert, Klaus Sadleir, Lynette G Anderlid, Britt-Marie Kvarnung, Malin Guerrini, Renzo Friez, Michael J Lyons, Michael J Leonhard, Jennifer Kringlen, Gabriel Casas, Kari El Achkar, Christelle M Smith, Lacey A Rotenberg, Alexander Poduri, Annapurna Sanchis-Juan, Alba Carss, Keren J Rankin, Julia Zeman, Adam Raymond, F Lucy Blyth, Moira Kerr, Bronwyn Ruiz, Karla Urquhart, Jill Hughes, Imelda Banka, Siddharth Hedrich, Ulrike B S Scheffer, Ingrid E Helbig, Ingo Zamponi, Gerald W Lerche, Holger Mefford, Heather C Producer: 20190514 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. [electronic resource] by Helbig, Katherine L Lauerer, Robert J Bahr, Jacqueline C Souza, Ivana A Myers, Candace T Uysal, Betül Schwarz, Niklas Gandini, Maria A Huang, Sun Keren, Boris Mignot, Cyril Afenjar, Alexandra Billette de Villemeur, Thierry Héron, Delphine Nava, Caroline Valence, Stéphanie Buratti, Julien Fagerberg, Christina R Soerensen, Kristina P Kibaek, Maria Kamsteeg, Erik-Jan Koolen, David A Gunning, Boudewijn Schelhaas, H Jurgen Kruer, Michael C Fox, Jordana Bakhtiari, Somayeh Jarrar, Randa Padilla-Lopez, Sergio Lindstrom, Kristin Jin, Sheng Chih Zeng, Xue Bilguvar, Kaya Papavasileiou, Antigone Xing, Qinghe Zhu, Changlian Boysen, Katja Vairo, Filippo Lanpher, Brendan C Klee, Eric W Tillema, Jan-Mendelt Payne, Eric T Cousin, Margot A Kruisselbrink, Teresa M Wick, Myra J Baker, Joshua Haan, Eric Smith, Nicholas Sadeghpour, Azita Davis, Erica E Katsanis, Nicholas Corbett, Mark A MacLennan, Alastair H Gecz, Jozef Biskup, Saskia Goldmann, Eva Rodan, Lance H Kichula, Elizabeth Segal, Eric Jackson, Kelly E Asamoah, Alexander Dimmock, David McCarrier, Julie Botto, Lorenzo D Filloux, Francis Tvrdik, Tatiana Cascino, Gregory D Klingerman, Sherry Neumann, Catherine Wang, Raymond Jacobsen, Jessie C Nolan, Melinda A Snell, Russell G Lehnert, Klaus Sadleir, Lynette G Anderlid, Britt-Marie Kvarnung, Malin Guerrini, Renzo Friez, Michael J Lyons, Michael J Leonhard, Jennifer Kringlen, Gabriel Casas, Kari El Achkar, Christelle M Smith, Lacey A Rotenberg, Alexander Poduri, Annapurna Sanchis-Juan, Alba Carss, Keren J Rankin, Julia Zeman, Adam Raymond, F Lucy Blyth, Moira Kerr, Bronwyn Ruiz, Karla Urquhart, Jill Hughes, Imelda Banka, Siddharth Hedrich, Ulrike B S Scheffer, Ingrid E Helbig, Ingo Zamponi, Gerald W Lerche, Holger Mefford, Heather C Publication details: American journal of human genetics Mar 2019 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)