R
R. Jeroen Pasterkamp
Researcher at Utrecht University
Publications - 163
Citations - 11743
R. Jeroen Pasterkamp is an academic researcher from Utrecht University. The author has contributed to research in topics: Semaphorin & Amyotrophic lateral sclerosis. The author has an hindex of 53, co-authored 140 publications receiving 9606 citations. Previous affiliations of R. Jeroen Pasterkamp include Netherlands Institute for Neuroscience & University Medical Center.
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Journal ArticleDOI
Semaphorin 7A promotes axon outgrowth through integrins and MAPKs
TL;DR: It is shown that Sema7A, a membrane-anchored member of the semaphorin family of guidance proteins previously known for its immunomodulatory effects, can also mediate neuronal functions and enhances central and peripheral axon growth and is required for proper axon tract formation during embryonic development.
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
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
Yingxiao Shi,Shaoyu Lin,Kim A. Staats,Yichen Li,Wen-Hsuan Chang,Shu Ting Hung,Eric Hendricks,Gabriel R. Linares,Yaoming Wang,Esther Y. Son,Xinmei Wen,Kassandra Kisler,Brent Wilkinson,Louise Menendez,Tohru Sugawara,Phillip E. Woolwine,Mickey Huang,Michael J. Cowan,Brandon B Ge,Nicole Koutsodendris,Kaitlin P. Sandor,Jacob Komberg,Vamshidhar R. Vangoor,Ketharini Senthilkumar,Valerie Hennes,Carina Seah,Amy R. Nelson,Tze-Yuan Cheng,Shih Jong J. Lee,Paul R. August,Jason A. Chen,N. Wisniewski,Victor Hanson-Smith,T. Grant Belgard,Alice Zhang,Marcelo P. Coba,Chris Grunseich,Michael E. Ward,Leonard H. van den Berg,R. Jeroen Pasterkamp,Davide Trotti,Berislav V. Zlokovic,Justin K. Ichida +42 more
Abstract: An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic mechanism of this repeat remains unclear Using human induced motor neurons (iMNs), we found that repeat-expanded C9ORF72 was haploinsufficient in ALS We found that C9ORF72 interacted with endosomes and was required for normal vesicle trafficking and lysosomal biogenesis in motor neurons Repeat expansion reduced C9ORF72 expression, triggering neurodegeneration through two mechanisms: accumulation of glutamate receptors, leading to excitotoxicity, and impaired clearance of neurotoxic dipeptide repeat proteins derived from the repeat expansion Thus, cooperativity between gain- and loss-of-function mechanisms led to neurodegeneration Restoring C9ORF72 levels or augmenting its function with constitutively active RAB5 or chemical modulators of RAB5 effectors rescued patient neuron survival and ameliorated neurodegenerative processes in both gain- and loss-of-function C9ORF72 mouse models Thus, modulating vesicle trafficking was able to rescue neurodegeneration caused by the C9ORF72 repeat expansion Coupled with rare mutations in ALS2, FIG4, CHMP2B, OPTN and SQSTM1, our results reveal mechanistic convergence on vesicle trafficking in ALS and FTD
Journal ArticleDOI
Microglia innately develop within cerebral organoids.
Paul R. Ormel,Renata Vieira de Sá,Emma J. van Bodegraven,Henk Karst,Oliver Harschnitz,Marjolein A. M. Sneeboer,Lill Eva Johansen,Roland van Dijk,Nicky Scheefhals,Amber Berdenis van Berlekom,Eduardo Ribes Martínez,Sandra Kling,Harold D. MacGillavry,Leonard H. van den Berg,René S. Kahn,Elly M. Hol,Elly M. Hol,Lot de Witte,R. Jeroen Pasterkamp +18 more
TL;DR: It is demonstrated that mature microglia-like cells are generated within their cerebral organoid model, providing new avenues for studying human micro glia in a three-dimensional brain environment.