Efficacy and safety of a SOD1-targeting artificial miRNA delivered by AAV9 in mice are impacted by miRNA scaffold selection

Autor: Shukkwan K. Chen, Zachary C.E. Hawley, Maria I. Zavodszky, Sam Hana, Daniel Ferretti, Branka Grubor, Michael Hawes, Shanqin Xu, Stefan Hamann, Galina Marsh, Patrick Cullen, Ravi Challa, Thomas M. Carlile, Hang Zhang, Wan-Hung Lee, Andrea Peralta, Pete Clarner, Cong Wei, Kathryn Koszka, Feng Gao, Shih-Ching Lo

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 34, Iss , Pp 102057- (2023)

Toxic gain-of-function mutations in superoxide dismutase 1 (SOD1) contribute to approximately 2%–3% of all amyotrophic lateral sclerosis (ALS) cases. Artificial microRNAs (amiRs) delivered by adeno-associated virus (AAV) have been proposed as a pot

Externí odkaz: https://doaj.org/article/5ec0da9397c241b68917b1eaa7b24e0e

mRNA structure determines modification by pseudouridine synthase 1

Autor: Thomas M. Carlile, Wendy V. Gilbert, Tristan A Bell, Nicole M. Martinez, Boris Zinshteyn, Amanda Su, Cassandra Schaening

Publikováno v: Nature chemical biology

Pseudouridine (Ψ) is a post-transcriptional RNA modification that alters RNA-RNA and RNA-protein interactions that affect gene expression. mRNA pseudouridylation was recently discovered as a widespread and conserved phenomenon, but the mechanisms re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ee8f0e4787396a87d5d568889d0b676
https://doi.org/10.1038/s41589-019-0353-z

SCD Inhibition Protects from α-Synuclein-Induced Neurotoxicity But Is Toxic to Early Neuron Cultures

Autor: Melissa Bennion, Justin W. Nicholatos, Andreas Weihofen, Joost Groot, Thomas M. Carlile, Isin Dalkilic-Liddle, Lori Hrdlicka, David T. Tran, Shekhar Dhokai, Warren D. Hirst

Publikováno v: eNeuro

Here we report the independent discovery and validation of Stearoyl-CoA desaturase (SCD) as a modulator of alpha-synuclein (αSyn) induced pathology and toxicity in cell-based Parkinson’s Disease models (PD). We identified SCD as top altered gene f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::113ae30442d1325f7906cb63d467e0e5
https://pubmed.ncbi.nlm.nih.gov/34301719

MOG autoantibodies trigger a tightly-controlled FcR and BTK-driven microglia proliferative response

Autor: Patrick Cullen, Chelsea Parker Harp, Jorge Vera Rebollar, Taylor L. Reynolds, Rebecca Basile, Christie-Ann McCarl, Benjamin A. Smith, Angela Li, Jeremy C. Burns, John Silbereis, Jing Zhu, Ellen Cahir-McFarland, Alex Pellerin, Michael Mingueneau, Stephen J Rubino, Hao Tang, Nathalie Franchimont, Thomas M. Carlile, Baohong Zhang, Jennifer Sybulski, Thomas O. Cameron, Kathryn Pellerin, Richard M. Ransohoff, Luke Jandreski

Publikováno v: Brain : a journal of neurology. 144(8)

Autoantibodies are a hallmark of numerous neurological disorders, including multiple sclerosis, autoimmune encephalitides and neuromyelitis optica. Whilst well understood in peripheral myeloid cells, the pathophysiological significance of autoantibod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f4631f0f58502257fef331949582c1a
https://pubmed.ncbi.nlm.nih.gov/34382068

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

Autor: Zobaida Alsum, Soraya Boucherit, Lluis Quintana-Murci, Peng Zhang, Luigi D. Notarangelo, Joseph A. Church, Daxing Gao, Rabih Halwani, Lazaro Lorenzo, Thomas M. Carlile, Maria F. Rojas-Duran, Ahmed Aziz Bousfiha, Yuval Itan, Laurent Abel, Flore Rozenberg, Fabien G. Lafaille, Wendy V. Gilbert, Jean-Laurent Casanova, Vimel Rattina, Marc Tessier-Lavigne, Lorenz Studer, Trine H. Mogensen, Bastian Zimmer, Benoit Henry, Søren R. Paludan, Shen-Ying Zhang, Franck Rapaport, Gregory A. Smith, Saleh Al-Muhsen, Michael J. Ciancanelli, Gaspard Kerner, Jessica L. McAlpine, Kerry Dobbs, Madalina E. Carter-Timofte, Laura Marques, Oliver Harschnitz, Osefame Ewaleifoh, Mary Hasek, Dominik Paquet, Marc Tardieu, Naima Amenzoui, Yoon Seung Lee, Dylan Kwart

Publikováno v: Lafaille, F G, Harschnitz, O, Lee, Y S, Zhang, P, Hasek, M L, Kerner, G, Itan, Y, Ewaleifoh, O, Rapaport, F, Carlile, T M, Carter-Timofte, M E, Paquet, D, Dobbs, K, Zimmer, B, Gao, D, Rojas-Duran, M F, Kwart, D, Rattina, V, Ciancanelli, M J, McAlpine, J L, Lorenzo, L, Boucherit, S, Rozenberg, F, Halwani, R, Henry, B, Amenzoui, N, Alsum, Z, Marques, L, Church, J A, Al-Muhsen, S, Tardieu, M, Bousfiha, A A, Paludan, S R, Mogensen, T H, Quintana-Murci, L, Tessier-Lavigne, M, Smith, G A, Notarangelo, L D, Studer, L, Gilbert, W, Abel, L, Casanova, J L & Zhang, S Y 2019, ' Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis ', Nature Medicine, vol. 25, no. 12, pp. 1873-1884 . https://doi.org/10.1038/s41591-019-0672-3
Nature Medicine
Nature Medicine, 2019, 25 (12), pp.1873-1884. ⟨10.1038/s41591-019-0672-3⟩
Nature Medicine, Nature Publishing Group, 2019, 25 (12), pp.1873-1884. ⟨10.1038/s41591-019-0672-3⟩
Nature medicine

International audience; Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is typically sporadic. Inborn errors of TLR3- and DBR1-mediated central nervous system cell-intrinsic immunity can account for forebrain and brainstem HSE, respectively. We rep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dbe9bd2041435e0df6ada9573bd2856
https://pure.au.dk/portal/da/publications/human-snora31-variations-impair-cortical-neuronintrinsic-immunity-to-hsv1-and-underlie-herpes-simplex-encephalitis(81007800-1ad6-46e3-ab81-f589b19898cf).html