A
Alan E. Renton
Researcher at Icahn School of Medicine at Mount Sinai
Publications - 82
Citations - 10301
Alan E. Renton is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Medicine & C9orf72. The author has an hindex of 28, co-authored 65 publications receiving 8484 citations. Previous affiliations of Alan E. Renton include Imperial College London & UCL Institute of Neurology.
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Journal ArticleDOI
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
Alan E. Renton,Elisa Majounie,Adrian James Waite,Javier Simón-Sánchez,Javier Simón-Sánchez,Sara Rollinson,J. Raphael Gibbs,J. Raphael Gibbs,Jennifer C. Schymick,Hannu Laaksovirta,John C. van Swieten,John C. van Swieten,Liisa Myllykangas,Hannu Kalimo,Anders Paetau,Yevgeniya Abramzon,Anne M. Remes,Alice Kaganovich,Sonja W. Scholz,Sonja W. Scholz,Sonja W. Scholz,Jamie Duckworth,Jinhui Ding,Daniel W. Harmer,Dena G. Hernandez,Dena G. Hernandez,Janel O. Johnson,Janel O. Johnson,Kin Y. Mok,Mina Ryten,Danyah Trabzuni,Rita Guerreiro,Richard W. Orrell,James Neal,Alexandra Murray,J. P. Pearson,Iris E. Jansen,David Sondervan,Harro Seelaar,Derek J. Blake,Kate Young,Nicola Halliwell,Janis Bennion Callister,Greg Toulson,Anna Richardson,Alexander Gerhard,Julie S. Snowden,David M. A. Mann,David Neary,Mike A. Nalls,Terhi Peuralinna,Lilja Jansson,Veli-Matti Isoviita,Anna-Lotta Kaivorinne,Maarit Hölttä-Vuori,Elina Ikonen,Raimo Sulkava,Michael Benatar,Joanne Wuu,Adriano Chiò,Gabriella Restagno,Giuseppe Borghero,Mario Sabatelli,David Heckerman,Ekaterina Rogaeva,Lorne Zinman,Jeffrey D. Rothstein,Michael Sendtner,Carsten Drepper,Evan E. Eichler,Can Alkan,Ziedulla Abdullaev,Svetlana Pack,Amalia Dutra,Evgenia Pak,John Hardy,Andrew B. Singleton,Nigel Williams,Peter Heutink,Stuart Pickering-Brown,Huw R. Morris,Huw R. Morris,Huw R. Morris,Pentti J. Tienari,Bryan J. Traynor,Bryan J. Traynor +85 more
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.
Journal ArticleDOI
State of play in amyotrophic lateral sclerosis genetics.
TL;DR: Current literature of the major genes underlying ALS, SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, C9ORF72 and PFN1 are summarized and how each new genetic discovery is broadening the phenotype associated with the clinical entity the authors know as ALS is outlined.
Journal ArticleDOI
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie,Alan E. Renton,Kin Y. Mok,Elise G.P. Dopper,Elise G.P. Dopper,Adrian James Waite,Sara Rollinson,Adriano Chiò,Gabriella Restagno,Nayia Nicolaou,Nayia Nicolaou,Javier Simón-Sánchez,Javier Simón-Sánchez,John C. van Swieten,John C. van Swieten,Yevgeniya Abramzon,Janel O. Johnson,Michael Sendtner,Roger Pamphlett,Richard W. Orrell,Simon Mead,Katie C. L. Sidle,Henry Houlden,Jonathan D. Rohrer,Karen E. Morrison,Hardev Pall,Kevin Talbot,Olaf Ansorge,Dena G. Hernandez,Sampath Arepalli,Mario Sabatelli,Gabriele Mora,Massimo Corbo,Fabio Giannini,Andrea Calvo,Elisabet Englund,Giuseppe Borghero,Gian Luca Floris,Anne M. Remes,Hannu Laaksovirta,Leo McCluskey,John Q. Trojanowski,Vivianna M. Van Deerlin,Gerard D. Schellenberg,Mike A. Nalls,Vivian E. Drory,Chin-Song Lu,Chin-Song Lu,Tu-Hsueh Yeh,Tu-Hsueh Yeh,Hiroyuki Ishiura,Yuji Takahashi,Shoji Tsuji,Isabelle Le Ber,Isabelle Le Ber,Isabelle Le Ber,Alexis Brice,Alexis Brice,Alexis Brice,Carsten Drepper,Nigel Williams,Janine Kirby,Pamela J. Shaw,John Hardy,Pentti J. Tienari,Peter Heutink,Huw R. Morris,Huw R. Morris,Huw R. Morris,Stuart Pickering-Brown,Bryan J. Traynor,Bryan J. Traynor +71 more
TL;DR: A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD, suggesting a one-off expansion occurring about 1500 years ago.
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.
Journal ArticleDOI
PINK1 cleavage at position A103 by the mitochondrial protease PARL
Emma Deas,Helene Plun-Favreau,Sonia Gandhi,Howard Desmond,Svend Kjaer,Samantha H. Y. Loh,Alan E. Renton,Robert J. Harvey,Alexander J. Whitworth,L. Miguel Martins,Andrey Y. Abramov,Nicholas W. Wood +11 more
TL;DR: It is suggested that PINK1 cleavage is important for basal mitochondrial health and that PARL cleaves Pink1 to produce the ΔN-PINK1 fragment, and that loss of PARL results in aberrant PINK 1 cleavage in mammalian cells.