J
Jonathan Janssens
Researcher at University of Antwerp
Publications - 20
Citations - 2114
Jonathan Janssens is an academic researcher from University of Antwerp. The author has contributed to research in topics: Frontotemporal lobar degeneration & TARDBP. The author has an hindex of 13, co-authored 20 publications receiving 1930 citations.
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A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.
Ilse Gijselinck,Tim Van Langenhove,Julie van der Zee,Kristel Sleegers,Stéphanie Philtjens,Gernot Kleinberger,Jonathan Janssens,Karolien Bettens,Caroline Van Cauwenberghe,Sandra Pereson,Sebastiaan Engelborghs,Anne Sieben,Anne Sieben,Peter De Jonghe,Rik Vandenberghe,Patrick Santens,Jan De Bleecker,Githa Maes,Veerle Bäumer,Lubina Dillen,Geert Joris,Ivy Cuijt,Ellen Corsmit,Ellen Elinck,Jasper Van Dongen,Steven Vermeulen,Marleen Van den Broeck,Carolien Vaerenberg,Maria Mattheijssens,Karin Peeters,Wim Robberecht,Patrick Cras,Jean-Jacques Martin,Peter Paul De Deyn,Marc Cruts,Christine Van Broeckhoven +35 more
TL;DR: The GGGGCC repeat expansion is highly penetrant, explaining all of the contribution of chromosome 9p21 to FTLD and ALS in the Flanders-Belgian cohort and decreased expression of C9orf72 in brain suggests haploinsufficiency as an underlying disease mechanism.
Journal ArticleDOI
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
Hans Wils,Gernot Kleinberger,Jonathan Janssens,Sandra Pereson,Geert Joris,Ivy Cuijt,Veerle Smits,Chantal Ceuterick-de Groote,Christine Van Broeckhoven,Samir Kumar-Singh +9 more
TL;DR: A dose-dependent degeneration of cortical and spinal motor neurons and development of spastic quadriplegia reminiscent of ALS are shown and findings suggest that ≈25-kDa TDP-43 CTFs are noxious to neurons by a gain of aberrant nuclear function.
Journal ArticleDOI
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
Kohji Mori,Sven Lammich,Ian R. A. Mackenzie,Ignasi Forné,Sonja Zilow,Hans A. Kretzschmar,Dieter Edbauer,Jonathan Janssens,Gernot Kleinberger,Marc Cruts,Jochen Herms,Manuela Neumann,Manuela Neumann,Christine Van Broeckhoven,Thomas Arzberger,Christian Haass,Christian Haass +16 more
TL;DR: It is revealed that hnRNP A3 formed neuronal cytoplasmic and intranuclear inclusions in the hippocampus of patients with C9orf72 repeat extensions, and one protein component of these pathognomonic inclusions is identified.
Journal ArticleDOI
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis
Julia K. Götzl,Julia K. Götzl,Kohji Mori,Markus Damme,Katrin Fellerer,Sabina Tahirovic,Gernot Kleinberger,Jonathan Janssens,Julie van der Zee,Christina M. Lang,Elisabeth Kremmer,Jean-Jacques Martin,Sebastiaan Engelborghs,Hans A. Kretzschmar,Thomas Arzberger,Thomas Arzberger,Christine Van Broeckhoven,Christian Haass,Christian Haass,Anja Capell +19 more
TL;DR: The findings suggest that lysosomal storage disorders and GRN-associated FTLD may share common features and some NCL patients accumulate pathologically phosphorylated TDP-43 within their brains.
Journal ArticleDOI
Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD–ALS spectrum disorders
TL;DR: This review aims at highlighting and discussing the current knowledge on TDP-43 driven pathomechanisms leading to neurodegeneration as observed in T DP-43 proteinopathies.