PMC Links for Books (Select 4433752) - PMC

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 69905584.

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Tatiana Orme, Dena Hernandez, Owen A. Ross, Celia Kun-Rodrigues, Lee Darwent, Claire E. Shepherd, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, John Q. Trojanowski, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Valentina Escott-Price, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda Halliday, David J. Stone, Dennis W. Dickson, John Hardy, Andrew Singleton, Rita Guerreiro, Jose Bras

Acta Neuropathol Commun. 2020; 8: 5. Published online 2020 Jan 29. doi: 10.1186/s40478-020-0879-z

PMCID:: PMC6990558

Abstract Article PDF–615K

Select item 60475315.

Identification of TMEM230 mutations in familial Parkinson’s disease

Han-Xiang Deng, Yong Shi, Yi Yang, Kreshnik B. Ahmeti, Nimrod Miller, Cao Huang, Lijun Cheng, Hong Zhai, Sheng Deng, Karen Nuytemans, Nicola J. Corbett, Myung Jong Kim, Hao Deng, Baisha Tang, Ziquang Yang, Yanming Xu, Piao Chen, Bo Huang, Xiao-Ping Gao, Zhi Song, Zhenhua Liu, Faisal Fecto, Nailah Siddique, Tatiana Foroud, Joseph Jankovic, Bernardino Ghetti, Daniel A. Nicholson, Dimitri Krainc, Onur Melen, Jeffery M. Vance, Margaret A. Pericak-Vance, Yong-Chao Ma, Ali H. Rajput, Teepu Siddique

Nat Genet. Author manuscript; available in PMC 2018 Jul 16.

Published in final edited form as: Nat Genet. 2016 Jul; 48(7): 733–739. Published online 2016 Jun 6. doi: 10.1038/ng.3589

PMCID:: PMC6047531

Abstract Article PDF–989K

Select item 59895346.

The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human

Rafeeq Mir, Francesca Tonelli, Pawel Lis, Thomas Macartney, Nicole K. Polinski, Terina N. Martinez, Meng-Yun Chou, Andrew J.M. Howden, Theresa König, Christoph Hotzy, Ivan Milenkovic, Thomas Brücke, Alexander Zimprich, Esther Sammler, Dario R. Alessi

Biochem J. 2018 Jun 15; 475(11): 1861–1883. Prepublished online 2018 May 9. Published online 2018 Jun 6. doi: 10.1042/BCJ20180248

PMCID:: PMC5989534

Abstract Article PDF–11M

Select item 51475007.

Structural Mechanism for Cargo Recognition by the Retromer Complex

María Lucas, David C. Gershlick, Ander Vidaurrazaga, Adriana L. Rojas, Juan S. Bonifacino, Aitor Hierro

Cell. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Cell. 2016 Dec 1; 167(6): 1623–1635.e14. Published online 2016 Nov 23. doi: 10.1016/j.cell.2016.10.056

PMCID:: PMC5147500

Abstract Article PDF–2.7M

Select item 51209348.

Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report

Tereza Bartonikova, Katerina Mensikova, Lenka Mikulicova, Radek Vodicka, Radek Vrtel, Marek Godava, Miroslav Vastik, Michaela Kaiserova, Pavel Otruba, Iva Dolinova, Martin Nevrly, Petr Kanovsky

Medicine (Baltimore) 2016 Nov; 95(46): e5398. Published online 2016 Nov 18. doi: 10.1097/MD.0000000000005398

PMCID:: PMC5120934

Abstract Article PDF–502K

Select item 50184329.

VPS35 regulates cell surface recycling and signaling of dopamine receptor D1

Chen Wang, Mengxi Niu, Zehua Zhou, Xiaoyuan Zheng, Lingzhi Zhang, Ye Tian, Xiaojun Yu, Guojun Bu, Huaxi Xu, Qilin Ma, Yun-wu Zhang

Neurobiol Aging. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Neurobiol Aging. 2016 Oct; 46: 22–31. Published online 2016 May 21. doi: 10.1016/j.neurobiolaging.2016.05.016

PMCID:: PMC5018432

Abstract Article PDF–1.5M

Select item 473192510.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 454475311.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 411166712.

VPS35 Parkinson mutation impairs autophagy via WASH

Eszter Zavodszky, Matthew NJ Seaman, David C Rubinsztein

Cell Cycle. 2014 Jul 15; 13(14): 2155–2156. Published online 2014 Jun 25. doi: 10.4161/cc.29734

PMCID:: PMC4111667

Article PDF–282K

Select item 411039913.

Retromer Binding to FAM21 and the WASH Complex Is Perturbed by the Parkinson Disease-Linked VPS35(D620N) Mutation

Ian J. McGough, Florian Steinberg, Da Jia, Peter A. Barbuti, Kirsty J. McMillan, Kate J. Heesom, Alan L. Whone, Maeve A. Caldwell, Daniel D. Billadeau, Michael K. Rosen, Peter J. Cullen

Curr Biol. 2014 Jul 21; 24(14): 1670–1676. doi: 10.1016/j.cub.2014.06.024

Correction in:: Curr Biol. 2014 Jul 21; 24(14): 1678.

PMCID:: PMC4110399

Abstract Article PDF–2.1M

Select item 402476314.

Mutation in VPS35 associated with Parkinson’s disease impairs WASH complex association and inhibits autophagy

Eszter Zavodszky, Matthew N.J. Seaman, Kevin Moreau, Maria Jimenez-Sanchez, Sophia Y. Breusegem, Michael E. Harbour, David C. Rubinsztein

Nat Commun. 2014 May 13; 5: 3828. Published online 2014 May 13. doi: 10.1038/ncomms4828

PMCID:: PMC4024763

Abstract Article PDF–5.1M

Select item 402014515.

The Movement Disorder Society Evidence-Based Medicine Review Update: Treatments for the Non-Motor Symptoms of Parkinson's Disease

Klaus Seppi, Daniel Weintraub, Miguel Coelho, Santiago Perez-Lloret, Susan H. Fox, Regina Katzenschlager, Eva-Maria Hametner, Werner Poewe, Olivier Rascol, Christopher G. Goetz, Cristina Sampaio

Mov Disord. Author manuscript; available in PMC 2014 May 14.

Published in final edited form as: Mov Disord. 2011 Oct; 26(0 3): S42–S80. doi: 10.1002/mds.23884

PMCID:: PMC4020145

Abstract Article PDF–453K

Select item 399938016.

DNAJC13 mutations in Parkinson disease

Carles Vilariño-Güell, Alex Rajput, Austen J. Milnerwood, Brinda Shah, Chelsea Szu-Tu, Joanne Trinh, Irene Yu, Mary Encarnacion, Lise N. Munsie, Lucia Tapia, Emil K. Gustavsson, Patrick Chou, Igor Tatarnikov, Daniel M. Evans, Frederick T. Pishotta, Mattia Volta, Dayne Beccano-Kelly, Christina Thompson, Michelle K. Lin, Holly E. Sherman, Heather J. Han, Bruce L. Guenther, Wyeth W. Wasserman, Virginie Bernard, Colin J. Ross, Silke Appel-Cresswell, A. Jon Stoessl, Christopher A. Robinson, Dennis W. Dickson, Owen A. Ross, Zbigniew K. Wszolek, Jan O. Aasly, Ruey-Meei Wu, Faycal Hentati, Rachel A. Gibson, Peter S. McPherson, Martine Girard, Michele Rajput, Ali H. Rajput, Matthew J. Farrer

Hum Mol Genet. 2014 Apr 1; 23(7): 1794–1801. Published online 2013 Nov 11. doi: 10.1093/hmg/ddt570

PMCID:: PMC3999380

Abstract Article PDF–534K

Select item 394123517.

Retromer: A Master Conductor of Endosome Sorting

Christopher Burd, Peter J. Cullen

Cold Spring Harb Perspect Biol. 2014 Feb; 6(2): a016774. doi: 10.1101/cshperspect.a016774

PMCID:: PMC3941235

Abstract Article PDF–692K

Select item 362956718.

Screening for VPS35 mutations in Parkinson's disease

Una-Marie Sheerin, Gavin Charlesworth, Jose Bras, Rita Guerreiro, Kailash Bhatia, Thomas Foltynie, Patricia Limousin, Laura Silveira-Moriyama, Andrew Lees, Nicholas Wood

Neurobiol Aging. 2012 Apr; 33(4): 838.e1–838.e5. doi: 10.1016/j.neurobiolaging.2011.10.032

PMCID:: PMC3629567

Abstract Article

Select item 348870019.

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Manu Sharma, John P A Ioannidis, Jan O Aasly, Grazia Annesi, Alexis Brice, Lars Bertram, Maria Bozi, Maria Barcikowska, David Crosiers, Carl E Clarke, Maurizio F Facheris, Matthew Farrer, Gaetan Garraux, Suzana Gispert, Georg Auburger, Carles Vilariño-Güell, Georgios M Hadjigeorgiou, Andrew A Hicks, Nobutaka Hattori, Beom S Jeon, Zygmunt Jamrozik, Anna Krygowska-Wajs, Suzanne Lesage, Christina M Lill, Juei-Jueng Lin, Timothy Lynch, Peter Lichtner, Anthony E Lang, Cecile Libioulle, Miho Murata, Vincent Mok, Barbara Jasinska-Myga, George D Mellick, Karen E Morrison, Thomas Meitnger, Alexander Zimprich, Grzegorz Opala, Peter P Pramstaller, Irene Pichler, Sung Sup Park, Aldo Quattrone, Ekaterina Rogaeva, Owen A. Ross, Leonidas Stefanis, Joanne D Stockton, Wataru Satake, Peter A Silburn, Tim M Strom, Jessie Theuns, Eng- King Tan, Tatsushi Toda, Hiroyuki Tomiyama, Ryan J Uitti, Christine Van Broeckhoven, Karin Wirdefeldt, Zbigniew Wszolek, Georgia Xiromerisiou, Harumi S Yomono, Kuo-Chu Yueh, Yi Zhao, Thomas Gasser, Demetrius Maraganore, Rejko Krüger, on behalf of GEOPD consortium

J Med Genet. 2012 Nov; 49(11): 721–726. doi: 10.1136/jmedgenet-2012-101155

Correction in:: J Med Genet. 2013 Mar; 50(3): 202.

PMCID:: PMC3488700

Abstract Article PDF–219K

Select item 313581220.

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

Alexander Zimprich, Anna Benet-Pagès, Walter Struhal, Elisabeth Graf, Sebastian H. Eck, Marc N. Offman, Dietrich Haubenberger, Sabine Spielberger, Eva C. Schulte, Peter Lichtner, Shaila C. Rossle, Norman Klopp, Elisabeth Wolf, Klaus Seppi, Walter Pirker, Stefan Presslauer, Brit Mollenhauer, Regina Katzenschlager, Thomas Foki, Christoph Hotzy, Eva Reinthaler, Ashot Harutyunyan, Robert Kralovics, Annette Peters, Fritz Zimprich, Thomas Brücke, Werner Poewe, Eduard Auff, Claudia Trenkwalder, Burkhard Rost, Gerhard Ransmayr, Juliane Winkelmann, Thomas Meitinger, Tim M. Strom

Am J Hum Genet. 2011 Jul 15; 89(1): 168–175. doi: 10.1016/j.ajhg.2011.06.008

PMCID:: PMC3135812

Abstract Article PDF–308K

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