Edbauer, Dieter

Rezaei A, Kocsis-Jutka V, Gunes ZI, Zeng Q, Kislinger G, Bauernschmitt F, Isilgan HB, Parisi LR, Kaya T, Franzenburg S, Koppenbrink J, Knogler J, Arzberger T, Farny D, Nuscher B, Katona E, Dhingra A, Yang C, Gouna G, LaClair KD, Janjic A, Enard W, Zhou Q, Hagan N, Ofengeim D, Beltrán E, Gokce O, Simons M, Liebscher S, Edbauer D. Correction of dysregulated lipid metabolism normalizes gene expression in oligodendrocytes and prolongs lifespan in female poly-GA C9orf72 mice. Nat Commun. 2025 Apr 11;16(1):3442. doi: 10.1038/s41467-025-58634-4. PMID: 40216746; PMCID: PMC11992041.
Simonetti F, Zhong W, Hutten S, Uliana F, Schifferer M, Rezaei A, Ramirez LM, Hochmair J, Sankar R, Gopalan A, Kielisch F, Riemenschneider H, Ruf V, Schmidt C, Simons M, Zweckstetter M, Wegmann S, Lashley T, Polymenidou M, Edbauer D, Dormann D. Direct interaction between TDP-43 and Tau promotes their co- condensation, while suppressing Tau fibril formation and seeding. EMBO J. 2025 Oct 17. doi: 10.1038/s44318- 025-00590-2. Epub ahead of print. PMID: 41107545.

Caldi Gomes L, Hänzelmann S, Hausmann F, Khatri R, Oller S, Parvaz M, Tzeplaeff L, Pasetto L, Gebelin M, Ebbing M, Holzapfel C, Columbro SF, Scozzari S, Knöferle J, Cordts I, Demleitner AF, Deschauer M, Dufke C, Sturm M, Zhou Q, Zelina P, Sudria-Lopez E, Haack TB, Streb S, Kuzma-Kozakiewicz M, Edbauer D, Pasterkamp RJ, Laczko E, Rehrauer H, Schlapbach R, Carapito C, Bonetto V, Bonn S, Lingor P. Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target. Nat Commun. 2024 Jun 7;15(1):4893. doi: 10.1038/s41467-024-49196-y. PMID: 38849340; PMCID: PMC11161513.
de Calbiac H, Renault S, Haouy G, Jung V, Roger K, Zhou Q, Campanari ML, Chentout L, Demy DL, Marian A, Goudin N, Edbauer D, Guerrera C, Ciura S, Kabashi E. Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects. Autophagy. 2024 Oct;20(10):2164-2185. doi: 10.1080/15548627.2024.2358736. Epub 2024 Sep 24. PMID: 39316747; PMCID: PMC11423671.
Hausmann F, Caldi Gomes L, Hänzelmann S, Khatri R, Oller S, Gebelin M, Parvaz M, Tzeplaeff L, Pasetto L, Zhou Q, Zelina P, Edbauer D, Pasterkamp RJ, Rehrauer H, Schlapbach R, Carapito C, Bonetto V, Bonn S, Lingor P. A dataset profiling the multiomic landscape of the prefrontal cortex in amyotrophic lateral sclerosis. Gigascience. 2024 Jan 2;13:giae100. doi: 10.1093/gigascience/giae100. PMID: 39693632; PMCID: PMC11653894.
Hu Y, Hruscha A, Pan C, Schifferer M, Schmidt MK, Nuscher B, Giera M, Kostidis S, Burhan Ö, van Bebber F, Edbauer D, Arzberger T, Haass C, Schmid B. Mis-localization of endogenous TDP-43 leads to ALS-like early-stage metabolic dysfunction and progressive motor deficits. Mol Neurodegener. 2024 Jun 20;19(1):50. doi: 10.1186/s13024-024-00735-7. PMID: 38902734; PMCID: PMC11188230.
Shojaei M, Zhou Q, Palumbo G, Schaefer R, Kaskinoro J, Vehmaan-Kreula P, Bartenstein P, Brendel M, Edbauer D, Lindner S. Development and Preclinical Evaluation of a Copper-64-Labeled Antibody Targeting Glycine-Alanine Dipeptides for PET Imaging of C9orf72-Associated Amyotrophic Lateral Sclerosis/Frontotemporal Dementia. ACS Pharmacol Transl Sci. 2024 Apr 25;7(5):1404-1414. doi: 10.1021/acsptsci.4c00037. PMID: 38751620; PMCID: PMC11091963.
Reich M, Simon MJ, Polke B, Paris I, Werner G, Schrader C, Spieth L, Davis SS, Robinson S, de Melo GL, Schlaphoff L, Buschmann K, Berghoff S, Logan T, Nuscher B, de Weerd L, Edbauer D, Simons M, Suh JH, Sandmann T, Kariolis MS, DeVos SL, Lewcock JW, Paquet D, Capell A, Di Paolo G, Haass C. Peripheral expression of brain-penetrant progranulin rescues pathologies in mouse models of frontotemporal lobar degeneration. Sci Transl Med. 2024 Jun 5;16(750):eadj7308. doi: 10.1126/scitranslmed.adj7308. Epub 2024 Jun 5. PMID: 38838131.

Hipke K, Pitter B, Hruscha A, van Bebber F, Modic M, Bansal V, Lewandowski SA, Orozco D, Edbauer D, Bonn S, Haass C, Pohl U, Montanez E, Schmid B (2023). Loss of TDP-43 causes ectopic endothelial sprouting and migration defects through increased fibronectin, vcam 1 and integrin α4/β1. Front Cell Dev Biol. 2023 Jun 13;11:1169962. doi: 10.3389/fcell.2023.1169962. PMID: 37384248; PMCID: PMC10299809.
Jülg J, Edbauer D, Behrends C (2023). C9orf72 protein quality control by UBR5-mediated heterotypic ubiquitin chains. EMBO Rep. 2023 Jun 15:e55895. doi: 10.15252/embr.202255895. Epub ahead of print. PMID: 37317656.
Riemenschneider H, Simonetti F, Sheth U, Katona E, Roth S, Hutten S, Farny D, Michaelsen M, Nuscher B, Schmidt MK, Flatley A, Schepers A, Gruijs da Silva LA, Zhou Q, Klopstock T, Liesz A, Arzberger T, Herms J, Feederle R, Gendron TF, Dormann D, Edbauer D (2023). Targeting the glycine-rich domain of TDP-43 with antibodies prevents its aggregation in vitro and reduces neurofilament levels in vivo. Acta Neuropathol Commun. 2023 Jul 11;11(1):112. doi: 10.1186/s40478-023-01592-z. PMID: 37434215; PMCID: PMC10334564.

Czuppa M, Dhingra A, Zhou Q, Schludi C, König L, Scharf E, Farny D, Dalmia A, Täger J, Castillo-Lizardo M, Katona E, Mori K, Aumer T, Schelter F, Müller M, Carell T, Kalliokoski T, Messinger J, Rizzu P, Heutink P, Edbauer D (2022). Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2)n expression in C9orf72 ALS/FTD. Cell Rep. 2022 Jun 7;39(10):110913. doi: 10.1016/j.celrep.2022.110913. PMID: 35675776.
Gallo JM, Edbauer D (2022). A perturbed network in neurodegeneration. Science. 2022 Oct 7;378(6615):28-29. doi: 10.1126/science.ade4210. Epub 2022 Oct 6. PMID: 36201587.
Gruijs da Silva LA, Simonetti F, Hutten S, Riemenschneider H, Sternburg EL, Pietrek LM, Gebel J, Dötsch V, Edbauer D, Hummer G, Stelzl LS, Dormann D (2022). Disease-linked TDP-43 hyperphosphorylation suppresses TDP-43 condensation and aggregation. EMBO J. 2022 Feb 3:e108443. doi: 10.15252/embj.2021108443. Epub ahead of print. PMID: 35112738.
Riemenschneider H, Guo Q, Bader J, Frottin F, Farny D, Kleinberger G, Haass C, Mann M, Hartl FU, Baumeister W, Hipp MS, Meissner F, Fernández-Busnadiego R, Edbauer D (2022). Gel-like inclusions of C-terminal fragments of TDP-43 sequester stalled proteasomes in neurons. EMBO Rep. 2022 Apr 19:e53890. doi: 10.15252/embr.202153890. Epub ahead of print. PMID: 35438230.
Strohm L, Hu Z, Suk Y, Rühmkorf A, Sternburg E, Gattringer V, Riemenschneider H, Berutti R, Graf E, Weishaupt JH, Brill MS, Harbauer AB, Dormann D, Dengjel J, Edbauer D, Behrends C (2022). Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD-associated UBQLN2 mutants. Life Sci Alliance. 2022 Jul 1;5(11):e202101327. doi: 10.26508/lsa.202101327. PMID: 35777956.

Heindl S, Ricci A, Carofiglio O, Zhou Q, Arzberger T, Lenart N, Franzmeier N, Hortobagyi T, Nelson PT, Stowe AM, Denes A, Edbauer D, Liesz A (2021). Chronic T cell proliferation in brains after stroke could interfere with the efficacy of immunotherapies. J Exp Med. 2021 Aug 2;218(8):e20202411. doi: 10.1084/jem.20202411. Epub 2021 May 26. PMID: 34037669.
Mori K, Gotoh S, Yamashita T, Uozumi R, Kawabe Y, Tagami S, Kamp F, Nuscher B, Edbauer D, Haass C, Nagai Y, Ikeda M (2021). The porphyrin TMPyP4 inhibits elongation during the non-canonical translation of the FTLD/ALS-associated GGGGCC repeat in the C9orf72 gene. J Biol Chem. 2021 Aug 24:101120. doi: 10.1016/j.jbc.2021.101120. Epub ahead of print. PMID: 34450161.
Nuebling GS, Prix C, Brendel M, Beyer L, Wlasich E, Loosli SV, Barthel H, Sabri O, Bartenstein P, Vöglein J, Danek A, Rominger A, Edbauer D, Haass C, Levin J (2021). Low-degree trisomy 21 mosaicism promotes early-onset Alzheimer disease. Neurobiol Aging. 2021 Feb 28:S0197-4580(21)00076-2. doi: 10.1016/j.neurobiolaging.2021.02.021. Epub ahead of print. PMID: 33789815.
Wagner M, Lorenz G, Volk AE, Brunet T, Edbauer D, Berutti R, Zhao C, Anderl-Straub S, Bertram L, Danek A, Deschauer M, Dill V, Fassbender K, Fliessbach K, Götze KS, Jahn H, Kornhuber J, Landwehrmeyer B, Lauer M, Obrig H, Prudlo J, Schneider A, Schroeter ML, Uttner I, Vukovich R, Wiltfang J, Winkler AS, Zhou Q, Ludolph AC; German FTLD consortium, Oexle K, Otto M, Diehl-Schmid J, Winkelmann J (2021). Clinico-genetic findings in 509 frontotemporal dementia patients. Mol Psychiatry. 2021 Sep 24. doi: 10.1038/s41380-021-01271-2. Epub ahead of print. PMID: 34561610.

Abo-Rady M, Kalmbach N, Pal A, Schludi C, Janosch A, Richter T, Freitag P, Bickle M, Kahlert AK, Petri S, Stefanov S, Glass H, Staege S, Just W, Bhatnagar R, Edbauer D, Hermann A, Wegner F, Sterneckert JL (2020). Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins. Stem Cell Reports. 2020 Feb 5. pii: S2213-6711(20)30031-X. doi: 10.1016/j.stemcr.2020.01.010. [Epub ahead of print]
Hutten S, Usluer S, Bourgeois B, Simonetti F, Odeh HM, Fare CM, Czuppa M, Hruska-Plochan M, Hofweber M, Polymenidou M, Shorter J, Edbauer D, Madl T, Dormann D (2020). Nuclear Import Receptors Directly Bind to Arginine-Rich Dipeptide Repeat Proteins and Suppress Their Pathological Interactions. Cell Rep. 2020 Dec 22;33(12):108538. doi: 10.1016/j.celrep.2020.108538. PMID: 33357437.
Khosravi B, LaClair KD, Riemenschneider H, Zhou Q, Frottin F, Mareljic N, Czuppa M, Farny D, Hartmann H, Michaelsen M, Arzberger T, Hartl FU, Hipp MS, Edbauer D (2020). Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD. EMBO J. 2020 Mar 16:e102811. doi: 10.15252/embj.2019102811. [Epub ahead of print]
LaClair KD, Zhou Q, Michaelsen M, Wefers B, Brill MS, Janjic A, Rathkolb B, Farny D, Cygan M, de Angelis MH, Wurst W, Neumann M, Enard W, Misgeld T, Arzberger T, Edbauer D (2020). Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS. Acta Neuropathol. 2020;10.1007/s00401-020-02176-0. doi:10.1007/s00401-020-02176-0 [published online ahead of print, 2020 Jun 19].
Werner G, Damme M, Schludi M, Gnörich J, Wind K, Fellerer K, Wefers B, Wurst W, Edbauer D, Brendel M, Haass C, Capell A (2020). Loss of TMEM106B potentiates lysosomal and FTLD-like pathology in progranulin-deficient mice. EMBO Rep. 2020 Sep 14:e50241. doi: 10.15252/embr.202050241. Epub ahead of print. PMID: 32929860.

Diehl-Schmid J, Licata A, Goldhardt O, Förstl H, Yakushew I, Otto M, Anderl-Straub S, Beer A, Ludolph AC, Landwehrmeyer GB, Levin J, Danek A, Fliessbach K, Spottke A, Fassbender K, Lyros E, Prudlo J, Krause BJ, Volk A, Edbauer D, Schroeter ML, Drzezga A, Kornhuber J, Lauer M; FTLDc Study Group, Grimmer T (2019). FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations. Transl Psychiatry. 2019 Jan 31;9(1):54. doi: 10.1038/s41398-019-0381-1.
Nihei Y, Mori K, Werner G, Arzberger T, Zhou Q, Khosravi B, Japtok J, Hermann A, Sommacal A, Weber M; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance, Kamp F, Nuscher B, Edbauer D, Haass C (2019). Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3. Acta Neuropathol. 2019 Oct 23. doi: 10.1007/s00401-019-02082-0. [Epub ahead of print]
Parhizkar S, Arzberger T, Brendel M, Kleinberger G, Deussing M, Focke C, Nuscher B, Xiong M, Ghasemigharagoz A, Katzmarski N, Krasemann S, Lichtenthaler SF, Müller SA, Colombo A, Monasor LS, Tahirovic S, Herms J, Willem M, Pettkus N, Butovsky O, Bartenstein P, Edbauer D, Rominger A, Ertürk A, Grathwohl SA, Neher JJ, Holtzman DM, Meyer-Luehmann M, Haass C (2019). Loss of TREM2 function increases amyloid seeding but reduces plaque-associated ApoE. Nat Neurosci. 2019 Jan 7. doi: 10.1038/s41593-018-0296-9. [Epub ahead of print]
Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R (2019). Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD. Acta Neuropathol. 2019 Feb 9. doi: 10.1007/s00401-019-01962-9. [Epub ahead of print]
Zhou Q, Mareljic N, Michaelsen M, Parhizkar S, Heindl S, Nuscher B, Farny D, Czuppa M, Schludi C, Graf A, Krebs S, Blum H, Feederle R, Roth S, Haass C, Arzberger T, Liesz A, Edbauer D (2019). Active poly-GA vaccination prevents microglia activation and motor deficits in a C9orf72 mouse model. EMBO Mol Med. 2019 Dec 20:e10919. doi: 10.15252/emmm.201910919. [Epub ahead of print]

Arzberger T, Schludi MH, Lehmer C, Schmid B, Edbauer D (2018). RNA versus protein toxicity in C9orf72 ALS/FTLD. Acta Neuropathol. 2018 Feb 15. doi: 10.1007/s00401-018-1823-1. [Epub ahead of print]
Frick P, Sellier C, Mackenzie IRA, Cheng CY, Tahraoui-Bories J, Martinat C, Pasterkamp RJ, Prudlo J, Edbauer D, Oulad-Abdelghani M, Feederle R, Charlet-Berguerand N, Neumann M (2018). Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers. Acta Neuropathol Commun. 2018 Aug 3;6(1):72. doi: 10.1186/s40478-018-0579-0.
Guo Q, Lehmer C, Martínez-Sánchez A, Rudack T, Beck F, Hartmann H, Pérez-Berlanga M, Frottin F, Hipp MS, Hartl FU, Edbauer D, Baumeister W, Fernández-Busnadiego R (2018). In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment. Cell. 2018 Feb 8;172(4):696-705.e12. doi: 10.1016/j.cell.2017.12.030. Epub 2018 Feb 1.
Hartmann H, Hornburg D, Czuppa M, Bader J, Michaelsen M, Farny D, Arzberger T,rebbin BM, Kallenborn-Gerhardt W, Mann M, Meissner F, Edbauer D (2018). Proteomics and C9orf72 neuropathology identify ribosomes as poly-GR/PR interactors driving toxicity. Life Sci Alliance. 2018 May 16;1(2):e201800070. doi: 10.26508/lsa.201800070. eCollection 2018 May.
Lehmer C, Schludi MH, Ransom L, Greiling J, Junghänel M, Exner N, Riemenschneider H, van der Zee J, Van Broeckhoven C, Weydt P, Heneka MT, Edbauer D (2018). A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS. EMBO Mol Med. 2018 May 22. pii: e8558. doi: 10.15252/emmm.201708558. [Epub ahead of print]

Lehmer C, Oeckl P, Weishaupt JH, Volk AE, Diehl-Schmid J, Schroeter ML, Lauer M, Kornhuber J, Levin J, Fassbender K, Landwehrmeyer B; German Consortium for Frontotemporal Lobar Degeneration, Schludi MH, Arzberger T, Kremmer E, Flatley A, Feederle R, Steinacker P, Weydt P, Ludolph AC, Edbauer D, Otto M (2017). Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD. EMBO Mol Med. 2017 Apr 13. pii: e201607486. doi: 10.15252/emmm.201607486. [Epub ahead of print]
Ohki Y, Wenninger-Weinzierl A, Hruscha A, Asakawa K, Kawakami K, Haass C, Edbauer D, Schmid B (2017). Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration. Mol Neurodegener. 2017 Jan 14;12(1):6. doi: 10.1186/s13024-016-0146-8.
Schludi MH, Becker L, Garrett L, Gendron TF, Zhou Q, Schreiber F, Popper B, Dimou L, Strom TM, Winkelmann J, von Thaden A, Rentzsch K, May S, Michaelsen M, Schwenk BM, Tan J, Schoser B, Dieterich M, Petrucelli L, Hölter SM, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Klopstock T, Arzberger T, Edbauer D (2017). Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss. Acta Neuropathol. 2017 Apr 13. doi: 10.1007/s00401-017-1711-0. [Epub ahead of print]
Schludi MH, Edbauer D (2017). Targeting RNA G-quadruplexes as new treatment strategy for C9orf72 ALS/FTD. EMBO Mol Med. 2017 Nov 24. pii: e201708572. doi: 10.15252/emmm.201708572. [Epub ahead of print]
Zhou Q, Lehmer C, Michaelsen M, Mori K, Alterauge D, Baumjohann D, Schludi MH, Greiling J, Farny D, Flatley A, Feederle R, May S, Schreiber F, Arzberger T, Kuhm C, Klopstock T, Hermann A, Haass C, Edbauer D (2017). Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins. EMBO Mol Med. 2017 Mar 28. pii: e201607054. doi: 10.15252/emmm.201607054. [Epub ahead of print]

Bürger K, Arzberger T, Stephan J, Levin J, Edbauer D (2016). [Pathomechanismen und klinische Aspekte der frontotemporalen Lobärdegeneration] [Article in German] Nervenarzt. 2016 Dec 20. doi: 10.1007/s00115-016-0259-x. [Epub ahead of print]
Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D, Chun S, Sun S, Ling SC, Myers B, Engelhardt J, Katz M, Baughn M, Platoshyn O, Marsala M, Watt A, Heyser CJ, Ard MC, De Muynck L, Daughrity LM, Swing DA, Tessarollo L, Jung CJ, Delpoux A, Utzschneider DT, Hedrick SM, de Jong PJ, Edbauer D, Van Damme P, Petrucelli L, Shaw CE, Bennett CF, Da Cruz S, Ravits J, Rigo F, Cleveland DW, Lagier-Tourenne C (2016). Gain of toxicity from ALS/FTD-linked repeat expansions in C9ORF72 is alleviated by antisense oligonucleotides targeting GGGGCC-containing RNAs. Neuron. 2016 Apr 19. pii: S0896-6273(16)30064-2. doi: 10.1016/j.neuron.2016.04.006. [Epub ahead of print]
Khosravi B, Hartmann H, May S, Möhl C, Ederle H, Michaelsen M, Schludi MH, Dormann D, Edbauer D (2016). Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD. Hum Mol Genet. 2016 Dec 30. pii: ddw432. doi: 10.1093/hmg/ddw432. [Epub ahead of print]
Mori K, Nihei Y, Arzberger T, Zhou Q, Mackenzie IR, Hermann A, Hanisch F; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance, Kamp F, Nuscher B, Orozco D, Edbauer D, Haass C (2016). Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition. EMBO Rep. 2016 Jul 26. pii: e201541724. [Epub ahead of print]
Schwenk BM, Hartmann H, Serdaroglu A, Schludi MH, Hornburg D, Meissner F, Orozco D, Colombo A, Tahirovic S, Michaelsen M, Schreiber F, Haupt S, Peitz M, Brüstle O, Küpper C, Klopstock T, Otto M, Ludolph AC, Arzberger T, Kuhn PH, Edbauer D (2016). TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons. EMBO J. 2016 Sep 12. pii: e201694221. [Epub ahead of print]
Suárez-Calvet M, Neumann M, Arzberger T, Abou-Ajram C, Funk E, Hartmann H, Edbauer D, Kremmer E, Göbl C, Resch M, Bourgeois B, Madl T, Reber S, Jutzi D, Ruepp MD, Mackenzie IR, Ansorge O, Dormann D, Haass C (2016). Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS. Acta Neuropathol. 2016 Feb 19. [Epub ahead of print]
Zhang YJ, Gendron TF, Grima JC, Sasaguri H, Jansen-West K, Xu YF, Katzman RB, Gass J, Murray ME, Shinohara M, Lin WL, Garrett A, Stankowski JN, Daughrity L, Tong J, Perkerson EA, Yue M, Chew J, Castanedes-Casey M, Kurti A, Wang ZS, Liesinger AM, Baker JD, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Rademakers R, Boylan KB, Bu G, Link CD, Dickey CA, Rothstein JD, Dickson DW, Fryer JD, Petrucelli L (2016). C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. Nat Neurosci. 2016 Mar 21. doi: 10.1038/nn.4272. [Epub ahead of print]

Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Johnston A, Overstreet K, Edbauer D, Rademakers R, Boylan KB, Dickson DW, Fryer JD, Petrucelli L (2015). C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science. 2015 May 14. pii: aaa9344. [Epub ahead of print]
Edbauer D, Haass C (2015). An amyloid-like cascade hypothesis for C9orf72 ALS/FTD. Curr Opin Neurobiol. 2015 Nov 7;36:99-106. doi: 10.1016/j.conb.2015.10.009. [Epub ahead of print]
Fleck D, Voss M, Brankatschk B, Giudici C, Hampel H, Schwenk B, Edbauer D, Fukumori A, Steiner H, Kremmer E, Haug-Kröeper M, Rossner MJ, Fluhrer R, Willem M, Haass C (2015). Proteolytic processing of Neuregulin 1 type III by three intramembrane cleaving proteases. J Biol Chem. 2015 Nov 16. pii: jbc.M115.697995. [Epub ahead of print]J Biol Chem. 2015 Nov 16. pii: jbc.M115.697995. [Epub ahead of print]
Gendron TF, van Blitterswijk M, Bieniek KF, Daughrity LM, Jiang J, Rush BK, Pedraza O, Lucas JA, Murray ME, Desaro P, Robertson A, Overstreet K, Thomas CS, Crook JE, Castanedes-Casey M, Rousseau L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Rademakers R, Lagier-Tourenne C, Edbauer D, Cleveland DW, Dickson DW, Petrucelli L, Boylan KB (2015). Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta Neuropathol. 2015 Sep 8. [Epub ahead of print]
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, Ivanoiu A, Deryck O, Edbauer D, Zhang M, Heeman B, Bäumer V, Van den Broeck M, Mattheijssens M, Peeters K, Rogaeva E, De Jonghe P, Cras P, Martin JJ, de Deyn PP, Cruts M, Van Broeckhoven C (2015). The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. Mol Psychiatry. 2015 Oct 20. doi: 10.1038/mp.2015.159. [Epub ahead of print]
Mackenzie IR, Frick P, Grässer FA, Gendron TF, Petrucelli L, Cashman NR, Edbauer D, Kremmer E, Prudlo J, Troost D, Neumann M (2015). Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers. Acta Neuropathol. 2015 Sep 15. [Epub ahead of print]
Roeber S, Müller-Sarnowski F, Kress J, Edbauer D, Kuhlmann T, Tüttelmann F, Schindler C, Winter P, Arzberger T, Müller U, Danek A, Kretzschmar HA (2015). Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease. J Neural Transm. 2015 Sep 8. [Epub ahead of print]
Schludi MH, May S, Grässer FA, Rentzsch K, Kremmer E, Küpper C, Klopstock T; German Consortium for Frontotemporal Lobar Degeneration; Bavarian Brain Banking Alliance, Arzberger T, Edbauer D (2015). Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing. Acta Neuropathol. 2015 Jun 18. [Epub ahead of print]
van Blitterswijk M, Gendron TF, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Daughrity LM, Murray ME, Heckman MG, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R (2015). Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. Acta Neuropathol. 2015 Oct 5. [Epub ahead of print]

Banzhaf-Strathmann J, Edbauer D (2014). Good guy or bad guy: the opposing roles of microRNA 125b in cancer. Cell Commun Signal. 2014 Apr 28;12(1):30. [Epub ahead of print]
Banzhaf-Strathmann J, Benito E, May S, Arzberger T, Tahirovic S, Kretzschmar H, Fischer A, Edbauer D (2014). MicroRNA-125b induces tau hyperphosphorylation and cognitive deficits in Alzheimer's disease. EMBO J. 2014 Jul 7. pii: e201387576. [Epub ahead of print]
Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, Ince PG, Wharton SB, Wilson SA, Kirby J, Hautbergue GM, Shaw PJ (2014). Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain. 2014 May 27. pii: awu120. [Epub ahead of print]
May S, Hornburg D, Schludi MH, Arzberger T, Rentzsch K, Schwenk BM, Grässer FA, Mori K, Kremmer E, Banzhaf-Strathmann J, Mann M, Meissner F, Edbauer D (2014). C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration. Acta Neuropathol. 2014 Aug 14. [Epub ahead of print]
Proudfoot M, Gutowski NJ, Edbauer D, Hilton DA, Stephens M, Rankin J, Mackenzie IR (2014). Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability. Acta Neuropathol. 2014 Jan 21. [Epub ahead of print]
Schwenk BM, Edbauer D (2014). The ER under rapid fire. EMBO J. 2014 Apr 30. [Epub ahead of print]

28. Fleck D, van Bebber F, Colombo A, Galante C, Schwenk BM, Rabe L, Hampel H, Novak B, Kremmer E, Tahirovic S, Edbauer D, Lichtenthaler SF, Schmid B, Willem M, Haass C (2013). Dual cleavage of Neuregulin 1 type III by BACE1 and ADAM17 liberates its EGF-like domain and allows paracrine signaling. J Neuroscience 2013 33(18): 7856-7869; doi: 10.1523/JNEUROSCI.3372-12.2013
34. Heraud-Farlow JE, Sharangdhar T, Li X, Pfeifer P, Tauber S, Orozco D, Hörmann A, Thomas S, Bakosova A, Farlow AR, Edbauer D, Lipshitz HD, Morris QD, Bilban M, Doyle M, Kiebler MA (2013). Staufen2 Regulates Neuronal Target RNAs. Cell Rep. 2013 Dec 26;5(6):1511-8. doi: 10.1016/j.celrep.2013.11.039. Epub 2013 Dec 19.
Mackenzie IR, Arzberger T, Kremmer E, Troost D, Lorenzl S, Mori K, Weng SM, Haass C, Kretzschmar HA, Edbauer D, Neumann M (2013). Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. Acta Neuropathol. 2013 Oct 6. [Epub ahead of print]
Mori K, Lammich S, Mackenzie IR, Forné I, Zilow S, Kretzschmar H, Edbauer D, Janssens J, Kleinberger G, Cruts M, Herms J, Neumann M, Van Broeckhoven C, Arzberger T, Haass C (2013). hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol (2013) Feb 5. [Epub ahead of print]
Mori K, Arzberger T, Grässer FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D (2013). Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol. 2013 Oct 17. [Epub ahead of print]
Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013). The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS. Science (2013) Feb 7. [Epub ahead of print]
Orozco D, Edbauer D (2013). FUS-mediated alternative splicing in the nervous system: consequences for ALS and FTLD. J Mol Med (Berl). 2013 Aug 24. [Epub ahead of print]
Schmid B, Hruschaa A, Hogla S, Banzhaf-Strathmanna J, Strecker K, van der Zee J, Teucke M, Eimer S, Hegermann J, Kittelmann M, Kremmer E, Cruts M, Solchenberger B, Hasenkamp L, van Bebber F, Van Broeckhoven C, Edbauer D, Lichtenthaler SF, Haass C (2013). Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth. PNAS 2013 ; published ahead of print March 1, 2013, doi:10.1073/pnas.1218311110
Schwenk BM, Lang CM, Hogl S, Tahirovic S, Orozco D, Rentzsch K, Lichtenthaler SF, Hoogenraad CC, Capell A, Haass C, Edbauer D (2013). The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes. EMBO J. 2013 Dec 19. [Epub ahead of print]

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