A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis

Autor: Anika M. Helferich, Peter M. Andersen, Priyanka Tripathi, Vitaly Zimyanin, Sarah J Brockmann, Axel Freischmidt, Albert C. Ludolph, Hannes Glaß, Joachim Weis, Eleonora Aronica, Andreas Hermann, Peter J. Oefner, Karin M Danzer, Maria Demestre, Karlheinz Holzmann, Alfred Yamoah, Anand Goswami, Tobias M. Böckers, Jörg Reinders, Jochen H. Weishaupt, Katharina Limm, Ina Poser

Publikováno v: Brain
Brain 144(4), 1214-1229 (2021). doi:10.1093/brain/awab018
Brain, 144(4), 1214-1229. Oxford University Press

Knowledge about converging disease mechanisms in the heterogeneous syndrome amyotrophic lateral sclerosis (ALS) is rare, but may lead to therapies effective in most ALS cases. Previously, we identified serum microRNAs downregulated in familial ALS, t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::691c4d51f5ea8d795f65a3e3483b9bef
https://doi.org/10.1093/brain/awab018

Cytoplasmic FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and inhibitory synaptic defects

Autor: Scekic-Zahirovic, Jelena, Sanjuan-Ruiz, Inmaculada, Kan, Vanessa, Megat, Salim, De Rossi, Pierre, Dieterlé, Stéphane, Cassel, Raphaelle, Jamet, Marguerite, Kessler, Pascal, Wiesner, Diana, Tzeplaeff, Laura, Demais, Valérie, Sahadevan, Sonu, Hembach, Katharina M, Muller, Hans-Peter, Picchiarelli, Gina, Mishra, Nibha, Antonucci, Stefano, Dirrig-Grosch, Sylvie, Kassubek, Jan, Rasche, Volker, Ludolph, Albert, Boutillier, Anne-Laurence, Roselli, Francesco, Polymenidou, Magdalini, Lagier-Tourenne, Clotilde, Liebscher, Sabine, Dupuis, Luc

Publikováno v: Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.3028. ⟨10.1038/s41467-021-23187-9⟩
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Nature Communications 12(1), 3028 (2021). doi:10.1038/s41467-021-23187-9
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-23187-9⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-23187-9⟩
Nature Communications, 2021, 12 (1), pp.3028. ⟨10.1038/s41467-021-23187-9⟩

Gene mutations causing cytoplasmic mislocalization of the RNA-binding protein FUS lead to severe forms of amyotrophic lateral sclerosis (ALS). Cytoplasmic accumulation of FUS is also observed in other diseases, with unknown consequences. Here, we sho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c8536f94d17455134cebd44e2729e13b
https://www.hal.inserm.fr/inserm-03376335

The ALS-Associated FUS (P525L) Variant Does Not Directly Interfere with Microtubule-Dependent Kinesin-1 Motility

Autor: Seifert, Anne, Drechsler, Hauke, Japtok, Julia, Korten, Till, Diez, Stefan, Hermann, Andreas

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 2422, p 2422 (2021)
International journal of molecular sciences 22(5), 2422-(2021). doi:10.3390/ijms22052422
International Journal of Molecular Sciences
Volume 22
Issue 5

Deficient intracellular transport is a common pathological hallmark of many neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). Mutations in the fused-in-sarcoma (FUS) gene are one of the most common genetic causes for familial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ef91019ea3d39d68003d57630d8e5536
https://www.mdpi.com/1422-0067/22/5/2422

Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis

Autor: Hannes Glaβ, Peter Heutink, Marcel Naumann, Arun Pal, Nicole Kreiter, Benedikt Kretner, René Günther, Masin Abo-Rady, Andreas Hermann, Ashutosh Dhingra, Tobias M. Böckers, Jared Sterneckert, Banaja P. Dash, Julia Japtok

Publikováno v: Life Science Alliance
Life science alliance 4(4), e202000764-(2021). doi:10.26508/lsa.202000764

Axonal trafficking deficits and neurodegeneration in C9ORF72 motoneurons are mediated by GOF and LOF mechanisms with RNA foci and DPRs as upstream events, whereas DNA damage appears downstream.
Intronic hexanucleotide repeat expansions (HREs) in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1c8e9fe2a2303f8e4b32f90e68075bf
https://pubmed.ncbi.nlm.nih.gov/33619157

Isogenic FUS-eGFP iPSC Reporter Lines Enable Quantification of FUS Stress Granule Pathology that Is Rescued by Drugs Inducing Autophagy

Autor: Ian Casci, Angelo Poletti, Julia Japtok, Claudia Moebius, Karl Hackmann, Marc Bickle, Udai Bhan Pandey, Barbara Klink, Ellen Koerner, Lydia Reinhardt, Antje Janosch, Anthony A. Hyman, Andreas Hermann, Simon Alberti, Lara Marrone, Cordula Andree, Jared Sterneckert, Peter Reinhardt, Ina Poser, Hyun O. Lee, Maria Elena Cicardi

Publikováno v: Stem Cell Reports
Stem Cell Reports, Vol 10, Iss 2, Pp 375-389 (2018)
Stem cell reports 10(2), 375-389 (2018). doi:10.1016/j.stemcr.2017.12.018

Summary Perturbations in stress granule (SG) dynamics may be at the core of amyotrophic lateral sclerosis (ALS). Since SGs are membraneless compartments, modeling their dynamics in human motor neurons has been challenging, thus hindering the identifi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::367a59d6fc57ca1ec0aeef1d84ed53ba
https://doi.org/10.1016/j.stemcr.2017.12.018