A
Axel Freischmidt
Researcher at University of Ulm
Publications - 43
Citations - 2390
Axel Freischmidt is an academic researcher from University of Ulm. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Medicine. The author has an hindex of 18, co-authored 34 publications receiving 1744 citations. Previous affiliations of Axel Freischmidt include German Center for Neurodegenerative Diseases.
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Journal ArticleDOI
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Axel Freischmidt,Thomas Wieland,Benjamin Richter,Wolfgang Ruf,Veronique Schaeffer,Kathrin Muller,Nicolai Marroquin,Frida Nordin,Annemarie Hübers,Patrick Weydt,Susana Pinto,Rayomond Press,Stéphanie Millecamps,Nicolas Molko,Emilien Bernard,Claude Desnuelle,Marie-Hélène Soriani,Johannes Dorst,Elisabeth Graf,Ulrika Nordström,Marisa S. Feiler,Stefan Putz,Tobias M. Boeckers,Thomas F. Meyer,Andrea Sylvia Winkler,Juliane Winkelman,Mamede de Carvalho,Dietmar Rudolf Thal,Markus Otto,Thomas Brännström,Alexander E Volk,Petri Kursula,Karin M Danzer,Peter Lichtner,Ivan Dikic,Thomas Meitinger,Albert C. Ludolph,Tim M. Strom,Peter M Andersen,Jochen H. Weishaupt +39 more
TL;DR: It is concluded that haploinsufficiency of TBK1 causes ALS and fronto-temporal dementia.
Journal ArticleDOI
TDP-43 is intercellularly transmitted across axon terminals
Marisa S. Feiler,Benjamin Strobel,Axel Freischmidt,Anika M. Helferich,Julia Kappel,Bryson M. Brewer,Deyu Li,Dietmar Rudolf Thal,Paul Walther,Albert C. Ludolph,Karin M Danzer,Jochen H. Weishaupt +11 more
TL;DR: A protein complementation assay quantifying TDP-43 oligomerization in living neurons shows microvesicular and bidirectional synaptic transmission of TDP -43 and T DP-43 seeding activity in human ALS postmortem brain tissue.
Journal ArticleDOI
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation
Marcel Naumann,Arun Pal,Anand Goswami,Xenia Lojewski,Julia Japtok,Anne Vehlow,Anne Vehlow,Maximilian Naujock,Maximilian Naujock,René Günther,Mengmeng Jin,Nancy Stanslowsky,Peter Reinhardt,Jared Sterneckert,Marie Frickenhaus,Marie Frickenhaus,Francisco Pan-Montojo,Erik Storkebaum,Erik Storkebaum,Erik Storkebaum,Ina Poser,Axel Freischmidt,Jochen H. Weishaupt,Karlheinz Holzmann,Dirk Troost,Albert C. Ludolph,Tobias M. Boeckers,Stefan Liebau,Susanne Petri,Nils Cordes,Anthony A. Hyman,Florian Wegner,Stephan W. Grill,Stephan W. Grill,Joachim Weis,Alexander Storch,Andreas Hermann,Andreas Hermann +37 more
TL;DR: Using neurons derived from patients with F US-ALS, it is demonstrated that impairment of PARP-dependent DNA damage signaling is an event that occurs upstream of neurodegeneration and cytoplasmic aggregate formation in FUS-ALS.
Journal ArticleDOI
Hot-spot KIF5A mutations cause familial ALS
David A. Brenner,Rüstem Yilmaz,Kathrin Muller,Torsten Grehl,Susanne Petri,Thomas F. Meyer,Julian Grosskreutz,Patrick Weydt,Patrick Weydt,Wolfgang Ruf,Christoph Neuwirth,Markus Weber,Susana Pinto,Kristl G. Claeys,Berthold Schrank,Berit Jordan,Antje Knehr,Kornelia Günther,Annemarie Hübers,Daniel Zeller,Christian Kubisch,Christian Kubisch,Sibylle Jablonka,Michael Sendtner,Thomas Klopstock,Thomas Klopstock,Mamede de Carvalho,Anne D. Sperfeld,Guntram Borck,Alexander E Volk,Alexander E Volk,Johannes Dorst,Joachim Weis,Markus Otto,Joachim Schuster,Kelly Del Tredici,Heiko Braak,Karin M Danzer,Axel Freischmidt,Thomas Meitinger,Thomas Meitinger,Tim M. Strom,Tim M. Strom,Albert C. Ludolph,Peter M. Andersen,Peter M. Andersen,Jochen H. Weishaupt +46 more
TL;DR: Experiments using patient-derived cell lines suggest haploinsufficiency as the molecular genetic mechanism for classical ALS, which underlines the relevance of intracellular transport processes for ALS, and is important for clinico-genetic diagnosis and counselling.
Journal ArticleDOI
Age-dependent defects of alpha-synuclein oligomer uptake in microglia and monocytes
Corinna Bliederhaeuser,Veselin Grozdanov,Anna Speidel,Lisa Zondler,Wolfgang Ruf,Hanna Bayer,Martin Kiechle,Marisa S. Feiler,Axel Freischmidt,David A. Brenner,Anke Witting,Bastian Hengerer,Marcus Fändrich,Albert C. Ludolph,Jochen H. Weishaupt,Frank Gillardon,Karin M Danzer +16 more
TL;DR: It is shown that microglia isolated from adult mice, in contrast tomicroglia from young mice, display phagocytosis deficits of free and exosome-associated αsyn oligomers combined with enhanced TNFα secretion, and a dysregulation of monocyte subpopulations with age in mice and humans is described.