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Items: 15

1.
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Zuchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle
Brain. 2017 Feb; 140(2): 287–305. Published online 2017 Jan 30. doi: 10.1093/brain/aww307
PMCID:
PMC5278306
AbstractArticlePDF–1.8M
2.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucia Schottlaender, Christos Proukakis, Huw Morris, Tom Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew B. Singleton, John Hardy, Nicholas W. Wood, Patrick A. Lewis, Henry Houlden
Brain. 2016 Jul; 139(7): 1904–1918. Published online 2016 May 23. doi: 10.1093/brain/aww111
PMCID:
PMC4939695
AbstractArticlePDF–1.8M
3.
The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway
Carla F. Bento, Avraham Ashkenazi, Maria Jimenez-Sanchez, David C. Rubinsztein
Nat Commun. 2016; 7: 11803. Published online 2016 Jun 9. doi: 10.1038/ncomms11803
PMCID:
PMC4906231
AbstractArticlePDF–3.5M
4.
PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity
David Ramonet, Agata Podhajska, Klodjan Stafa, Sarah Sonnay, Alzbeta Trancikova, Elpida Tsika, Olga Pletnikova, Juan C. Troncoso, Liliane Glauser, Darren J. Moore
Hum Mol Genet. 2012 Apr 15; 21(8): 1725–1743. Published online 2011 Dec 20. doi: 10.1093/hmg/ddr606
PMCID:
PMC3465694
AbstractArticlePDF–904K
5.
Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism
Agata Podhajska, Alessandra Musso, Alzbeta Trancikova, Klodjan Stafa, Roger Moser, Sarah Sonnay, Liliane Glauser, Darren J. Moore
PLoS One. 2012; 7(6): e39942. Published online 2012 Jun 29. doi: 10.1371/journal.pone.0039942
PMCID:
PMC3386943
AbstractArticlePDF–10M
6.
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
Jose Bras, Alain Verloes, Susanne A. Schneider, Sara E. Mole, Rita J. Guerreiro
Hum Mol Genet. 2012 Jun 15; 21(12): 2646–2650. Published online 2012 Mar 2. doi: 10.1093/hmg/dds089
PMCID:
PMC3363329
AbstractArticlePDF–171K
7.
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
Lucio Santoro, Guido J. Breedveld, Fiore Manganelli, Rosa Iodice, Chiara Pisciotta, Maria Nolano, Francesca Punzo, Mario Quarantelli, Sabina Pappatà, Alessio Di Fonzo, Ben A. Oostra, Vincenzo Bonifati
Neurogenetics. 2011; 12(1): 33–39. Published online 2010 Sep 21. doi: 10.1007/s10048-010-0259-0
PMCID:
PMC3029807
AbstractArticlePDF–724K
8.
ATP13A2 variability in Parkinson disease
Carles Vilariño-Güell, Alexandra I. Soto, Sarah J. Lincoln, Samia Ben Yahmed, Mounir Kefi, Michael G. Heckman, Mary M. Hulihan, Hua Chai, Nancy N. Diehl, Rim Amouri, Alex Rajput, Deborah C. Mash, Dennis W. Dickson, Lefkos T. Middleton, Rachel A. Gibson, Faycal Hentati, Matthew J. Farrer
Hum Mutat. Author manuscript; available in PMC 2010 Mar 1.
Published in final edited form as: Hum Mutat. 2009 Mar; 30(3): 406–410. doi: 10.1002/humu.20877
PMCID:
PMC2650009
AbstractArticlePDF–271K
9.
The full-ORF clone resource of the German cDNA Consortium
Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp
BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399
PMCID:
PMC2213676
AbstractArticlePDF–939K
10.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
11.
Finnish Parkinson’s disease study integrating protein-protein interaction network data with exome sequencing analysis
Ari Siitonen, Laura Kytövuori, Mike A. Nalls, Raphael Gibbs, Dena G. Hernandez, Pauli Ylikotila, Markku Peltonen, Andrew B. Singleton, Kari Majamaa
Sci Rep. 2019; 9: 18865. Published online 2019 Dec 11. doi: 10.1038/s41598-019-55479-y
PMCID:
PMC6906405
AbstractArticlePDF–1.1M
12.
THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Transporters
Stephen PH Alexander, Eamonn Kelly, Neil V Marrion, John A Peters, Elena Faccenda, Simon D Harding, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators
Br J Pharmacol. 2017 Dec; 174(Suppl Suppl 1): S360–S446. Published online 2017 Oct 21. doi: 10.1111/bph.13883
PMCID:
PMC5650669
AbstractArticlePDF–1.7M
13.
The Concise Guide to PHARMACOLOGY 2015/16: Transporters
Stephen PH Alexander, Eamonn Kelly, Neil Marrion, John A Peters, Helen E Benson, Elena Faccenda, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators
Br J Pharmacol. 2015 Dec; 172(24): 6110–6202. Published online 2015 Dec 9. doi: 10.1111/bph.13355
PMCID:
PMC4718215
AbstractArticlePDF–2.0M
14.
The Concise Guide to Pharmacology 2013/14: Transporters
Stephen PH Alexander, Helen E Benson, Elena Faccenda, Adam J Pawson, Joanna L Sharman, Michael Spedding, John A Peters, Anthony J Harmar
Br J Pharmacol. 2013 Dec; 170(8): 1706–1796. Published online 2013 Dec 17. doi: 10.1111/bph.12450
PMCID:
PMC3892292
AbstractArticlePDF–1.6M
15.
Dynamic use of multiple parameter sets in sequence alignment
Xiaoqiu Huang, Douglas L. Brutlag
Nucleic Acids Res. 2007 Jan; 35(2): 678–686. Published online 2006 Dec 19. doi: 10.1093/nar/gkl1063
PMCID:
PMC1802605
AbstractArticlePDF–194K

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