Publications by authors named "Sergio Padilla-Lopez"

17Publications

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Nat Genet 2020 Oct 28;52(10):1046-1056. Epub 2020 Sep 28.

Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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http://dx.doi.org/10.1038/s41588-020-0695-1DOI Listing
October 2020

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.

Mov Disord 2016 11 22;31(11):1752-1753. Epub 2016 Sep 22.

Program in Neuroscience, Arizona State University, Tempe, Arizona, USA.

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http://dx.doi.org/10.1002/mds.26800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5380585PMC
November 2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

Neurol Genet 2016 Jun 12;2(3):e78. Epub 2016 May 12.

Department of Neuroscience (I.M., K.A.M.), Scripps Research Institute, Jupiter, FL; Shenzhen Key Laboratory of Neurogenomics (M.F., J.Z.), BGI-Shenzhen (M.F., C.G., J.Z., H.J.), Shenzhen, China; Department of Pediatric Metabolism (R.K.Ö., D.Y.Y., A.D.), Institute of Child Health; Department of Pediatric Neurology (D. Yalnızoğlu), Faculty of Medicine, Hacettepe University, Ankara, Turkey; Department of Pediatric Neurology (D. Yüksel), Dr. Sami Ulus Maternity and Children's Research and Training Hospital, Ministry of Health, Ankara, Turkey; Sanford Children's Health Research Center (A.Y., A.M., S.C.B., P.L.C.), Sioux Falls, SD; Department of Child Health (S.P.-L., M.C.K.), University of Arizona College of Medicine, Phoenix, AZ; Movement Disorders Center and Neurogenetics Research Program (S.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; and Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866576PMC
June 2016

The phosphatase Ptc7 induces coenzyme Q biosynthesis by activating the hydroxylase Coq7 in yeast.

J Biol Chem 2013 Sep 12;288(39):28126-37. Epub 2013 Aug 12.

From the Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-Consejo Superior de Investigaciones Científicas (CSIC), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III, Sevilla 41013, Spain.

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http://dx.doi.org/10.1074/jbc.M113.474494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784724PMC
September 2013

BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution.

Dis Model Mech 2012 Mar 22;5(2):191-9. Epub 2011 Nov 22.

Sanford Children's Health Research Center, Sanford Research/USD, Sioux Falls, SD 57104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291640PMC
http://dx.doi.org/10.1242/dmm.008490DOI Listing
March 2012

pH-dependent localization of Btn1p in the yeast model for Batten disease.

Dis Model Mech 2011 Jan 19;4(1):120-5. Epub 2010 Oct 19.

Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1242/dmm.006114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3008966PMC
January 2011

Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.

Hum Mol Genet 2010 Mar 16;19(5):931-42. Epub 2009 Dec 16.

Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1093/hmg/ddp560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2816617PMC
March 2010

Genetic evidence for the requirement of the endocytic pathway in the uptake of coenzyme Q6 in Saccharomyces cerevisiae.

Biochim Biophys Acta 2009 Jun 2;1788(6):1238-48. Epub 2009 Apr 2.

Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC and Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, E-41013 Sevilla, Spain.

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http://dx.doi.org/10.1016/j.bbamem.2009.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070215PMC
June 2009

Nitric oxide signaling is disrupted in the yeast model for Batten disease.

Mol Biol Cell 2007 Jul 2;18(7):2755-67. Epub 2007 May 2.

Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, 4710 Braga, Portugal.

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http://dx.doi.org/10.1091/mbc.e06-11-1053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1924819PMC
July 2007

Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole.

J Biol Chem 2006 Apr 18;281(15):10273-80. Epub 2006 Jan 18.

Center for Aging and Developmental Biology, Aab Institute of Biomedical Sciences, University of Rochester Institute of Medicine and Dentistry, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1074/jbc.M510625200DOI Listing
April 2006