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Simon Topp
Researcher at King's College London
Publications - 58
Citations - 6371
Simon Topp is an academic researcher from King's College London. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Gene. The author has an hindex of 26, co-authored 52 publications receiving 5132 citations. Previous affiliations of Simon Topp include GlaxoSmithKline.
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Journal ArticleDOI
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Hong Joo Kim,Nam Chul Kim,Yong Dong Wang,Emily A. Scarborough,Jennifer Moore,Zamia Diaz,Kyle S. MacLea,Brian D. Freibaum,Songqing Li,Amandine Molliex,Anderson P. Kanagaraj,Robert A. Carter,Kevin B. Boylan,Aleksandra Wojtas,Rosa Rademakers,Jack L. Pinkus,Steven A. Greenberg,John Q. Trojanowski,Bryan J. Traynor,Bradley N. Smith,Simon Topp,Athina Soragia Gkazi,Jack W. Miller,Christopher Shaw,Michael Kottlors,Janbernd Kirschner,Alan Pestronk,Yun Li,Alice Flynn Ford,Aaron D. Gitler,Michael Benatar,Oliver D. King,Virginia Kimonis,Eric D. Ross,Conrad C. Weihl,James Shorter,J. Paul Taylor +36 more
TL;DR: Dysregulated polymerization caused by a potent mutant steric zipper motif in a PrLD can initiate degenerative disease and related proteins with PrLDs should be considered candidates for initiating and perhaps propagating proteinopathies of muscle, brain, motor neuron and bone.
Journal ArticleDOI
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Elizabeth T. Cirulli,Brittany N. Lasseigne,Slavé Petrovski,Peter C. Sapp,Patrick A. Dion,Claire S. Leblond,Julien Couthouis,Yi-Fan Lu,Quanli Wang,Brian J. Krueger,Zhong-fa Ren,Jonathan E. M. Keebler,Yujun Han,Shawn Levy,Braden E. Boone,Jack R. Wimbish,Lindsay L. Waite,Angela Jones,John P. Carulli,Aaron G. Day-Williams,John F. Staropoli,Winnie Xin,Alessandra Chesi,Alya R. Raphael,Diane McKenna-Yasek,Janet Cady,J. M. B. Vianney de Jong,Kevin P. Kenna,Bradley N. Smith,Simon Topp,Jack W. Miller,Athina-Soragia Gkazi,Ammar Al-Chalabi,Leonard H. van den Berg,Jan H. Veldink,Vincenzo Silani,Nicola Ticozzi,Christopher Shaw,Robert H. Baloh,Stanley H. Appel,Ericka Simpson,Clotilde Lagier-Tourenne,Stefan M. Pulst,Summer Gibson,John Q. Trojanowski,Lauren Elman,Leo McCluskey,Murray Grossman,Neil A. Shneider,Wendy K. Chung,John Ravits,Jonathan D. Glass,Katherine B. Sims,Vivianna M. Van Deerlin,Tom Maniatis,Sebastian D. Hayes,Alban Ordureau,Sharan Swarup,John Landers,Frank Baas,Andrew S. Allen,Richard Bedlack,J. Wade Harper,Aaron D. Gitler,Guy A. Rouleau,Robert H. Brown,Matthew B. Harms,Gregory M. Cooper,Tim Harris,Richard M. Myers,David Goldstein +70 more
TL;DR: A moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS found several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene.
Journal ArticleDOI
An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
Matthew R. Nelson,Daniel Wegmann,Margaret G. Ehm,Darren Kessner,Pamela L. St. Jean,Claudio J. Verzilli,Judong Shen,Zheng-Zheng Tang,Silviu Alin Bacanu,Dana Fraser,Liling Warren,Jennifer L. Aponte,Matthew Zawistowski,Xiao Liu,Hao Zhang,Yong Zhang,Jun Li,Yun Li,Li Li,Peter Woollard,Simon Topp,Matthew D. Hall,Keith Nangle,Jun Wang,Gonçalo R. Abecasis,Lon R. Cardon,Sebastian Zöllner,John C. Whittaker,Stephanie L. Chissoe,John Novembre,Vincent Mooser +30 more
TL;DR: It is concluded that because of rapid population growth and weak purifying selection, human populations harbor an abundance of rare variants, many of which are deleterious and have relevance to understanding disease risk.
Journal ArticleDOI
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Wouter van Rheenen,Aleksey Shatunov,Annelot M. Dekker,Russell L. McLaughlin,Frank P. Diekstra,Sara L. Pulit,Rick A.A. van der Spek,Urmo Võsa,Simone de Jong,Simone de Jong,Matthew R. Robinson,Jian Yang,Isabella Fogh,Isabella Fogh,Perry T.C. van Doormaal,Gijs H.P. Tazelaar,Max Koppers,Anna M. Blokhuis,William Sproviero,Ashley R. Jones,Kevin P. Kenna,Kristel R. van Eijk,Oliver Harschnitz,Raymond D. Schellevis,William J. Brands,Jelena Medic,Androniki Menelaou,Alice Vajda,Alice Vajda,Nicola Ticozzi,Kuang Lin,Boris Rogelj,Katarina Vrabec,Metka Ravnik-Glavač,Blaž Koritnik,Janez Zidar,Lea Leonardis,Leja Dolenc Grošelj,Stéphanie Millecamps,François Salachas,Vincent Meininger,Mamede de Carvalho,Susana Pinto,Jesus S. Mora,Ricardo Rojas-García,Meraida Polak,Siddharthan Chandran,Shuna Colville,Robert Swingler,Karen E. Morrison,Pamela J. Shaw,John Hardy,Richard W. Orrell,Alan M. Pittman,Katie Sidle,Pietro Fratta,Andrea Malaspina,Simon Topp,Susanne Petri,Susanne Abdulla,Carsten Drepper,Michael Sendtner,Thomas F. Meyer,Roel A. Ophoff,Roel A. Ophoff,Roel A. Ophoff,Kim A. Staats,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M. Van Deerlin,John Q. Trojanowski,Lauren Elman,Leo McCluskey,A. Nazli Basak,Ceren Tunca,Hamid Hamzeiy,Yesim Parman,Thomas Meitinger,Peter Lichtner,Milena Radivojkov-Blagojevic,Christian R. Andres,Cindy Maurel,Gilbert Bensimon,Bernhard Landwehrmeyer,Alexis Brice,Christine Payan,Safaa Saker-Delye,Alexandra Durr,Nicholas W. Wood,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Marcella Rietschel,Sven Cichon,Markus M. Nöthen,Philippe Amouyel,Christophe Tzourio,Jean-François Dartigues,André G. Uitterlinden,Fernando Rivadeneira,Karol Estrada,Albert Hofman,Albert Hofman,Charles Curtis,Charles Curtis,Hylke M. Blauw,Anneke J. van der Kooi,Marianne de Visser,An Goris,Markus Weber,Christopher Shaw,Bradley N. Smith,Orietta Pansarasa,Cristina Cereda,Roberto Del Bo,Giacomo P. Comi,Sandra D'Alfonso,Cinzia Bertolin,Gianni Sorarù,Letizia Mazzini,Viviana Pensato,Cinzia Gellera,Cinzia Tiloca,Antonia Ratti,Andrea Calvo,Cristina Moglia,Maura Brunetti,Simona Arcuti,Rosa Capozzo,Chiara Zecca,Christian Lunetta,Silvana Penco,Nilo Riva,Alessandro Padovani,Massimiliano Filosto,Bernard Muller,Robbert Jan Stuit,Ian P. Blair,Katharine Y. Zhang,Emily P. McCann,Jennifer A. Fifita,Garth A. Nicholson,Garth A. Nicholson,Dominic B. Rowe,Roger Pamphlett,Matthew C. Kiernan,Julian Grosskreutz,Otto W. Witte,Thomas M. Ringer,Tino Prell,Beatrice Stubendorff,Ingo Kurth,Christian A. Hübner,P. Nigel Leigh,Federico Casale,Adriano Chiò,Ettore Beghi,Elisabetta Pupillo,Rosanna Tortelli,Giancarlo Logroscino,John Powell,Albert C. Ludolph,Jochen H. Weishaupt,Wim Robberecht,Philip Van Damme,Lude Franke,Tune H. Pers,Robert H. Brown,Jonathan D. Glass,John Landers,Orla Hardiman,Orla Hardiman,Peter M. Andersen,Peter M. Andersen,Philippe Corcia,Patrick Vourc'h,Vincenzo Silani,Naomi R. Wray,Peter M. Visscher,Paul I.W. de Bakker,Michael A. van Es,R. Jeroen Pasterkamp,Cathryn M. Lewis,Gerome Breen,Gerome Breen,Ammar Al-Chalabi,Leonard H. van den Berg,Jan H. Veldink +187 more
TL;DR: Evidence of ALS being a complex genetic trait with a polygenic architecture is established and the SNP-based heritability is estimated at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%).
Journal ArticleDOI
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Aude Nicolas,Kevin P. Kenna,Alan E. Renton,Alan E. Renton,Nicola Ticozzi,Faraz Faghri,Faraz Faghri,Ruth Chia,Janice A. Dominov,Brendan J. Kenna,Mike A. Nalls,Pamela Keagle,Alberto M. Rivera,Wouter van Rheenen,Natalie A. Murphy,Joke J.F.A. van Vugt,Joshua T. Geiger,Rick A.A. van der Spek,Hannah A. Pliner,Shankaracharya,Bradley N. Smith,Giuseppe Marangi,Giuseppe Marangi,Simon Topp,Yevgeniya Abramzon,Yevgeniya Abramzon,Athina Soragia Gkazi,John D. Eicher,Aoife Kenna,Francesco Logullo,Isabella Simone,Giancarlo Logroscino,Fabrizio Salvi,Ilaria Bartolomei,Giuseppe Borghero,Maria Rita Murru,Emanuela Costantino,Carla Pani,Roberta Puddu,Carla Caredda,Valeria Piras,Stefania Tranquilli,Stefania Cuccu,Daniela Corongiu,Maurizio Melis,Antonio Milia,Francesco Marrosu,Maria Giovanna Marrosu,Gianluca Floris,Antonino Cannas,Margherita Capasso,Claudia Caponnetto,Gianluigi Mancardi,Paola Origone,Paola Mandich,Francesca Luisa Conforti,Sebastiano Cavallaro,Gabriele Mora,Kalliopi Marinou,Riccardo Sideri,Silvana Penco,Lorena Mosca,Christian Lunetta,Giuseppe Lauria Pinter,Massimo Corbo,Nilo Riva,Paola Carrera,Paolo Volanti,Jessica Mandrioli,Nicola Fini,Antonio Fasano,Lucio Tremolizzo,A Arosio,Carlo Ferrarese,Francesca Trojsi,Gioacchino Tedeschi,Maria Rosaria Monsurrò,Giovanni Piccirillo,Cinzia Femiano,Anna Ticca,Enzo Ortu,Vincenzo La Bella,Rossella Spataro,Tiziana Colletti,Mario Sabatelli,Marcella Zollino,Amelia Conte,Marco Luigetti,Serena Lattante,Marialuisa Santarelli,Antonio Petrucci,Maura Pugliatti,Angelo Pirisi,Leslie D. Parish,Patrizia Occhineri,Fabio Giannini,Stefania Battistini,Claudia Ricci,Michele Benigni,Tea B. Cau,Daniela Loi,Andrea Calvo,Cristina Moglia,Maura Brunetti,Marco Barberis,Gabriella Restagno,Federico Casale,Giuseppe Marrali,Giuseppe Fuda,Irene Ossola,Stefania Cammarosano,Antonio Canosa,Antonio Ilardi,Umberto Manera,Maurizio Grassano,Raffaella Tanel,Fabrizio Pisano,Letizia Mazzini,Sonia Messina,Isabella Laura Simone,Sandra D'Alfonso,Lucia Corrado,Luigi Ferrucci,Matthew B. Harms,David Goldstein,Neil A. Shneider,Stephen A. Goutman,Zachary Simmons,Timothy M. Miller,Siddharthan Chandran,Suvankar Pal,George Manousakis,Stanley H. Appel,Ericka Simpson,Leo H. Wang,Robert H. Baloh,Summer B. Gibson,Richard Bedlack,David Lacomis,Dhruv Sareen,Alexander Sherman,Lucie Bruijn,Michelle Penny,Cristiane de Araújo Martins Moreno,Sitharthan Kamalakaran,Andrew S. Allen,Stanley Appel,Richard S. Bedlack,Braden E. Boone,Robert H. Brown,John P. Carulli,Alessandra Chesi,Wendy K. Chung,Elizabeth T. Cirulli,Gregory M. Cooper,Julien Couthouis,Aaron G. Day-Williams,Patrick A. Dion,Aaron D. Gitler,Jonathan D. Glass,Yujun Han,Timothy D. Harris,Sebastian D. Hayes,Angela Jones,Jonathan Keebler,Brian J. Krueger,Brittany N. Lasseigne,Shawn Levy,Yi-Fan Lu,Tom Maniatis,Diane McKenna-Yasek,Richard M. Myers,Slavé Petrovski,Stefan M. Pulst,Alya R. Raphael,John M. Ravits,Zhong Ren,Guy A. Rouleau,Peter C. Sapp,Katherine B. Sims,John F. Staropoli,Lindsay L. Waite,Quanli Wang,Jack R. Wimbish,Winnie Xin,Hemali Phatnani,Justin Y. Kwan,James R. Broach,Ximena Arcila-Londono,Edward B. Lee,Vivianna M. Van Deerlin,Ernest Fraenkel,Lyle W. Ostrow,Frank Baas,Noah Zaitlen,James D. Berry,Andrea Malaspina,Pietro Fratta,Gregory A. Cox,Leslie M. Thompson,Steve Finkbeiner,Efthimios Dardiotis,Eran Hornstein,Daniel MacGowan,Terry Heiman-Patterson,Molly G. Hammell,Nikolaos A. Patsopoulos,Joshua Dubnau,Avindra Nath,Rajeeva Musunuri,Uday S. Evani,Avinash Abhyankar,Michael C. Zody,Julia A. Kaye,Steven Finkbeiner,Stacia K. Wyman,Alexander LeNail,Leandro Lima,Jeffrey D. Rothstein,Clive N. Svendsen,Jenny Van Eyk,Nicholas J. Maragakis,Stephen J. Kolb,Merit Cudkowicz,Emily G. Baxi,Stacia Wyman,Alex LeNail,Jennifer E. Van Eyk,Michael Benatar,J. Paul Taylor,Gang Wu,Evadnie Rampersaud,Joanne Wuu,Rosa Rademakers,Stephan Züchner,Rebecca Schüle,Jacob L. McCauley,Sumaira Hussain,Anne Cooley,Marielle Wallace,Christine Clayman,Richard J. Barohn,Jeffrey Statland,John Ravits,Andrea Swenson,Carlayne E. Jackson,Jaya Trivedi,Shaida Khan,Jonathan L. Katz,Liberty Jenkins,Ted M. Burns,Kelly G. Gwathmey,James Caress,Corey T. McMillan,Lauren Elman,Erik P. Pioro,Jeannine M. Heckmann,Yuen T. So,David Walk,Samuel Maiser,Jinghui Zhang,Vincenzo Silani,C. Gellera,Antonia Ratti,Franco Taroni,Giuseppe Lauria,Federico Verde,Isabella Fogh,Cinzia Tiloca,Giacomo P. Comi,Gianni Sorarù,Cristina Cereda,Fabiola De Marchi,Stefania Corti,Mauro Ceroni,Gabriele Siciliano,Massimiliano Filosto,Maurizio Inghilleri,Silvia Peverelli,Claudia Colombrita,Barbara Poletti,Luca Maderna,Roberto Del Bo,Stella Gagliardi,Giorgia Querin,Cinzia Bertolin,Viviana Pensato,Barbara Castellotti,William Camu,Kevin Mouzat,Serge Lumbroso,Philippe Corcia,Vincent Meininger,Gérard Besson,Emmeline Lagrange,Pierre Clavelou,Nathalie Guy,Philippe Couratier,Patrick Vourc'h,Veronique Danel,Emilien Bernard,Gwendal Lemasson,Hannu Laaksovirta,Liisa Myllykangas,Lilja Jansson,Miko Valori,John Ealing,Hisham Hamdalla,Sara Rollinson,Stuart Pickering-Brown,Richard W. Orrell,Katie C. L. Sidle,John Hardy,Andrew B. Singleton,Janel O. Johnson,Sampath Arepalli,Meraida Polak,Seneshaw Asress,Safa Al-Sarraj,Andrew T. King,Claire Troakes,Caroline Vance,Jacqueline de Belleroche,Anneloor L.M.A. ten Asbroek,José Luis Muñoz-Blanco,Dena G. Hernandez,Jinhui Ding,J. Raphael Gibbs,Sonja W. Scholz,Mary Kay Floeter,Roy H. Campbell,Francesco Landi,Robert Bowser,Daniel J. L. MacGowan,Janine Kirby,Erik P. Pioro,Roger Pamphlett,James Broach,Glenn S. Gerhard,Travis Dunckley,Christopher B. Brady,Christopher B. Brady,Neil W. Kowall,Juan C. Troncoso,Isabelle Le Ber,Terry Heiman-Patterson,Terry Heiman-Patterson,Freya Kamel,Ludo Van Den Bosch,Tim M. Strom,Thomas Meitinger,Aleksey Shatunov,Kristel R. van Eijk,Mamede de Carvalho,Maarten Kooyman,Bas Middelkoop,Matthieu Moisse,Russell L. McLaughlin,Michael A. van Es,Markus Weber,Kevin B. Boylan,Marka van Blitterswijk,Karen E. Morrison,A. Nazli Basak,Jesus S. Mora,Vivian E. Drory,Pamela J. Shaw,Martin R Turner,Kevin Talbot,Orla Hardiman,Kelly L. Williams,Jennifer A. Fifita,Garth A. Nicholson,Garth A. Nicholson,Ian P. Blair,Jesús Esteban-Pérez,Alberto García-Redondo,Ammar Al-Chalabi,Ahmad Al Kheifat,Peter M. Andersen,Adriano Chiò,Jonathan Cooper-Knock,Annelot M. Dekker,Vivian E. Drory,Alberto Garcia Redondo,Marc Gotkine,Winston Hide,Alfredo Iacoangeli,Jonathan Glass,K.P. Kenna,Matthew C. Kiernan,John E. Landers,Russell McLaughlin,Jonathan Mill,Miguel Mitne Neto,Mattieu Moisse,Jesus S. Mora Pardina,Karen E. Morrison,Stephen Newhouse,Susana Pinto,Sara L. Pulit,Wim Robberecht,Pamela Shaw,Chris Shaw,William Sproviero,Gijs H.P. Tazelaar,Philip Van Damme,Leonard H. van den Berg,Rick van der Spek,Kristel R van Eijk,Michael A van Es,Joke van Vugt,J. H. Veldink,Mayana Zatz,Denis C. Bauer,Natalie A. Twine,Ekaterina Rogaeva,Lorne Zinman,Johnathan Cooper-Knock,Alexis Brice,Stephen A. Goutman,Eva L. Feldman,Summer Gibson,Albert C. Ludolph,Peter M Andersen,Jochen H. Weishaupt,John Q. Trojanowski,Robert H. Brown,Leonard H. van den Berg,Jan H. Veldink,David J. Stone,Pentti J. Tienari,Christopher Shaw,Bryan J. Traynor,Bryan J. Traynor,John Landers +435 more
TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.