An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease.

Autor: Vancheri C; Department of Biomedicine and Prevention, Genetics Unit, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy., Quatrana A; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy.; Muscular and Neurodegenerative Diseases Laboratory, Bambino Gesù, Children's Hospital, IRCCS, Rome, Italy., Morini E; Department of Biomedicine and Prevention, Genetics Unit, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy., Mariotti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Mongelli A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Fichera M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy., Rufini A; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy.; Saint Camillus International University of Health and Medical Sciences, Rome, 00131, Italy., Condò I; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy., Testi R; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy., Novelli G; Department of Biomedicine and Prevention, Genetics Unit, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy.; Neuromed Institute, IRCCS, Pozzilli, 86077, Italy.; Department of Pharmacology, School of Medicine, University of Nevada, Reno, NV, 89557, USA., Malisan F; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy. malisan@med.uniroma2.it., Amati F; Department of Biomedicine and Prevention, Genetics Unit, Tor Vergata University of Rome, Via Montpellier 1, Rome, 00133, Italy. amati@med.uiroma2.it.

Publikováno v: Human genomics [Hum Genomics] 2024 May 22; Vol. 18 (1), pp. 50. Date of Electronic Publication: 2024 May 22.

Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia

Autor: Alfedi, G, Luffarelli, R, Condo, I, Pedini, G, Mannucci, L, Massaro, Ds, Benini, M, Toschi, N, Alaimo, G, Panarello, L, Pacini, L, Fortuni, S, Serio, D, Malisan, F, Testi, R, Rufini, A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3667::c17be574e771941af2e92fadb606f5b1
http://hdl.handle.net/2108/215353

Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.

Autor: Quatrana A; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome 00133, Italy., Morini E; Department of Biomedicine and Prevention, Section of Medical Genetics, University of Rome Tor Vergata, Rome 00133, Italy., Tiano F; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome 00133, Italy.; Unit of Oncogenomics and Epigenetics, IRCCS Regina Elena National Cancer Institute, Rome 00144, Italy., Vancheri C; Department of Biomedicine and Prevention, Section of Medical Genetics, University of Rome Tor Vergata, Rome 00133, Italy., Panarello L; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome 00133, Italy., Romano S; Neurosciences, Mental Health and Sensory Organs (NESMOS) Department, Faculty of Medicine and Psychology, Sapienza University, Rome 00189, Italy., Marcotulli C; UOC Neurology, Provincial General Hospital of Macerata, Macerata 62100, Italy., Casali C; Department of Medical Surgical Sciences and Biotechnologies, Polo Pontino-Sapienza University of Rome, Latina 04100, Italy., Mariotti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Mongelli A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Fichera M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Rufini A; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome 00133, Italy.; Fratagene Therapeutics Srl, Rome 00144, Italy.; Saint Camillus International University of Health and Medical Sciences, Rome 00131, Italy., Condò I; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome 00133, Italy., Novelli G; Department of Biomedicine and Prevention, Section of Medical Genetics, University of Rome Tor Vergata, Rome 00133, Italy.; Neuromed Institute, IRCCS, Pozzilli 86077, Italy., Testi R; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome 00133, Italy.; Fratagene Therapeutics Srl, Rome 00144, Italy., Amati F; Department of Biomedicine and Prevention, Section of Medical Genetics, University of Rome Tor Vergata, Rome 00133, Italy.; Department for the Promotion of Human Science and Quality of Life, University San Raffaele, Rome 00166, Italy., Malisan F; Department of Biomedicine and Prevention, Laboratory of Signal Transduction, University of Rome Tor Vergata, Rome 00133, Italy.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2022 Jun 22; Vol. 31 (12), pp. 2010-2022.

The Human Anti-bullous Pemphigoid Monoclonal Autoantibody P22 is Encoded by Genes of the IGHV4 and IGLV4 Families

Autor: Francès, V, Guret, C, Malisan, F, Peyron, E, Ho, S, Maat, M.J, Fossiez, F, Nicolas, J.F, Lebecque, S, Martinez-Valdez, H

Publikováno v: In Journal of Autoimmunity December 2000 15(4):459-468

Osteocyte ferroptosis induced by ATF3/TFR1 contributes to cortical bone loss during ageing.

Autor: Yin, Ying^1,2,3 (AUTHOR), Chen, Guang‐Jin^1,2,3 (AUTHOR), Yang, Chen^1,2,3 (AUTHOR), Wang, Jia‐Jia^1,2,3 (AUTHOR), Peng, Jin‐Feng^1,2,3 (AUTHOR), Huang, Xiao‐Fei^1,2,3 (AUTHOR), Tang, Qing‐Ming^1,2,3 (AUTHOR) hust_tang@hust.edu.cn, Chen, Li‐Li^1,2,3 (AUTHOR) chenlili1030@hust.edu.cn

Publikováno v: Cell Proliferation. Oct2024, Vol. 57 Issue 10, p1-11. 11p.