M
Max Koppers
Researcher at Utrecht University
Publications - 30
Citations - 3425
Max Koppers is an academic researcher from Utrecht University. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Translation (biology). The author has an hindex of 19, co-authored 27 publications receiving 2719 citations. Previous affiliations of Max Koppers include University of Cambridge.
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Journal ArticleDOI
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
Chi Hong Wu,Claudia Fallini,Nicola Ticozzi,Pamela Keagle,Peter C. Sapp,Peter C. Sapp,Katarzyna Piotrowska,Patrick Lowe,Max Koppers,Diane McKenna-Yasek,Desiree M. Baron,Jason E. Kost,Paloma Gonzalez-Perez,Andrew Fox,Jenni Adams,Franco Taroni,Cinzia Tiloca,Ashley Lyn Leclerc,Shawn C. Chafe,Dev Mangroo,Melissa J. Moore,Jill A. Zitzewitz,Zuoshang Xu,Leonard H. van den Berg,Jonathan D. Glass,Gabriele Siciliano,Elizabeth T. Cirulli,David Goldstein,François Salachas,Vincent Meininger,Wilfried Rossoll,Antonia Ratti,Cinzia Gellera,Daryl A. Bosco,Gary J. Bassell,Vincenzo Silani,Vivian E. Drory,Robert H. Brown,John Landers +38 more
TL;DR: It is shown that mutations within the profilin 1 (PFN1) gene can cause FALS, and cytoskeletal pathway alterations contribute to ALS pathogenesis.
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
Protein aggregation in amyotrophic lateral sclerosis
TL;DR: Recent advances in the understanding of the molecular make-up, formation, and mechanism-of-action of protein aggregates in ALS are discussed.
Journal ArticleDOI
Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons.
Jean-Michel Cioni,Julie Qiaojin Lin,Anne V. Holtermann,Max Koppers,Maximilian Ah Jakobs,Afnan Azizi,Benita Turner-Bridger,Toshiaki Shigeoka,Kristian Franze,William A. Harris,Christine E. Holt +10 more
TL;DR: It is reported that RNA granules associate with endosomes along the axons of retinal ganglion cells and it is suggested that they serve as sites for regulating the supply of nascent pro-survival proteins in axons.
Journal ArticleDOI
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
Max Koppers,Anna M. Blokhuis,Henk Jan Westeneng,Margo L. Terpstra,Caroline A C Zundel,Renata Baptista Vieira de Sá,Raymond D. Schellevis,Adrian James Waite,Derek J. Blake,Jan H. Veldink,Leonard H. van den Berg,R. Jeroen Pasterkamp +11 more
TL;DR: The effect of C9orf72 loss‐of‐function in mice is determined and it is shown that repeated expansions in C9ORF72 cause amyotrophic lateral sclerosis in mice.