Zobrazeno 1 - 10
of 10
pro vyhledávání: '"methods [Genetic Therapy]"'
Autor:
Robert McFarland, Cornelia Kornblum, David R. Thorburn, Anu Suomalainen, Laurence A. Bindoff, Michelangelo Mancuso, Grainne S. Gorman, Thomas Klopstock, Y.S. Ng, Robert W. Taylor, Douglass M. Turnbull, Carolyn M. Sue
Publikováno v:
The lancet / Neurology 20(7), 573-584 (2021). doi:10.1016/S1474-4422(21)00098-3
Mitochondrial diseases are some of the most common inherited neurometabolic disorders, and major progress has been made in our understanding, diagnosis, and treatment of these conditions in the past 5 years. Development of national mitochondrial dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4274b1f361652904111cc4c8ac3c925b
https://doi.org/10.1016/s1474-4422(21)00098-3
https://doi.org/10.1016/s1474-4422(21)00098-3
Autor:
Moster, Mark L, Sergott, Robert C, Sadun, Alfredo A, DeBusk, Adam A, Carbonelli, Michele, Hage, Rabih, Priglinger, Siegfried, Karanjia, Rustum, Blouin, Laure, Taiel, Magali, Katz, Barrett, Sahel, José Alain, Newman, Nancy J, group, LHON study, Yu-Wai-Man, Patrick, Carelli, Valerio, Bryan, Molly Scannell, Smits, Gerard, Biousse, Valérie, Vignal-Clermont, Catherine, Klopstock, Thomas
Publikováno v:
Journal of Neuro-Ophthalmology
Journal of neuro-ophthalmology 41(3), 298-308 (2021). doi:10.1097/WNO.0000000000001316
Journal of neuro-ophthalmology 41(3), 298-308 (2021). doi:10.1097/WNO.0000000000001316
OBJECTIVE: This report presents a cross-sectional analysis of the baseline characteristics of subjects with Leber hereditary optic neuropathy enrolled in the gene therapy trials RESCUE and REVERSE, to illustrate the evolution of visual parameters ove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a859b80cf449813d0a2a3e53babfd2b
http://europepmc.org/articles/PMC8366757
http://europepmc.org/articles/PMC8366757
Autor:
Biousse, Valérie, Newman, Nancy J, Esposti, Simona, La Morgia, Chiara, Priglinger, Claudia, Karanja, Rustum, Blouin, Laure, Taiel, Magali, Sahel, José-Alain, Group, LHON Study, Yu-Wai-Man, Patrick, Carelli, Valerio, Moster, Mark L, Vignal-Clermont, Catherine, Klopstock, Thomas, Sadun, Alfredo A, Sergott, Robert C, Hage, Rabih
Publikováno v:
Journal of Neuro-Ophthalmology
Journal of Neuro-Ophthalmology, Lippincott, Williams & Wilkins, 2020, 41 (3), pp.309-315. ⟨10.1097/wno.0000000000001367⟩
Journal of neuro-ophthalmology 41(3), 309-315 (2021). doi:10.1097/WNO.0000000000001367
Journal of Neuro-Ophthalmology, Lippincott, Williams & Wilkins, 2020, 41 (3), pp.309-315. ⟨10.1097/wno.0000000000001367⟩
Journal of neuro-ophthalmology 41(3), 309-315 (2021). doi:10.1097/WNO.0000000000001367
Supplemental Digital Content is Available in the Text.
Background: RESCUE and REVERSE were 2 Phase 3 clinical trials that assessed the efficacy and safety of intravitreal gene therapy with lenadogene nolparvovec (rAAV2/2-ND4) for the treatment o
Background: RESCUE and REVERSE were 2 Phase 3 clinical trials that assessed the efficacy and safety of intravitreal gene therapy with lenadogene nolparvovec (rAAV2/2-ND4) for the treatment o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4f70ac6a14ffd36a34ac106985e191d
http://europepmc.org/articles/PMC8366761
http://europepmc.org/articles/PMC8366761
Publikováno v:
Neuron
Neuron 101(4), 560-583 (2019). doi:10.1016/j.neuron.2019.01.049
Neuron, 2019, 101 (4), pp.560-583. ⟨10.1016/j.neuron.2019.01.049⟩
Neuron 101(4), 560-583 (2019). doi:10.1016/j.neuron.2019.01.049
Neuron, 2019, 101 (4), pp.560-583. ⟨10.1016/j.neuron.2019.01.049⟩
Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare degenerative and metabolic genetic diseases that share the hallmark of progressive damage of the cerebellum and its associated tracts. This Review focuses on recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fec9c2936b5faed2619071abfde692e
Publikováno v:
Neuropharmacology 167, 107842 (2020). doi:10.1016/j.neuropharm.2019.107842
Tauopathies are neurodegenerative brain diseases that are characterized by the formation of intraneuronal inclusions containing the microtubule-associated protein tau. This major hallmark defines tau pathology which is predominant in primary tauopath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6460bc787caea36d482d8300c607f2
https://doi.org/10.1016/j.neuropharm.2019.107842
https://doi.org/10.1016/j.neuropharm.2019.107842
Autor:
Oskar Ortiz, Wolfgang Wurst, Ralf Kühn, Stefan Engelhardt, Karin Kühner, Stanislas Werfel, Dong-Jiunn Jeffery Truong
Publikováno v:
Nucleic Acids Research
Nucleic acids symposium series 43(13), 6450-6458 (2015). doi:10.1093/nar/gkv601
Nucleic Acids Res. 43, 6450-6458 (2015)
Nucleic acids symposium series 43(13), 6450-6458 (2015). doi:10.1093/nar/gkv601
Nucleic Acids Res. 43, 6450-6458 (2015)
Using CRISPR/Cas9, it is possible to target virtually any gene in any organism. A major limitation to its application in gene therapy is the size of Cas9 (>4 kb), impeding its efficient delivery via recombinant adeno-associated virus (rAAV). Therefor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f81a0268bf81c4a39a1e45b5731e435
http://europepmc.org/articles/PMC4513872
http://europepmc.org/articles/PMC4513872
Autor:
Hans Werner Müller, Frank Bradke, Malleswari Challagundla, Thomas Ostendorf, Uwe Michel, Vinicius Toledo Ribas, Mathias Bähr, Sebastian Kügler, Paul Lingor, Jan C. Koch
Publikováno v:
Journal of neurochemistry 134(2), 261-275 (2015). doi:10.1111/jnc.13102
A lesion to the rat rubrospinal tract is a model for traumatic spinal cord lesions and results in atrophy of the red nucleus neurons, axonal dieback, and locomotor deficits. In this study, we used adeno-associated virus (AAV)-mediated over-expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::038478c060c4e44279d8cab4853f6575
https://doi.org/10.1111/jnc.13102
https://doi.org/10.1111/jnc.13102
Autor:
Michela Deleidi, Cong Yu
Publikováno v:
Biochemical and biophysical research communications 473(3), 665-674 (2016). doi:10.1016/j.bbrc.2016.02.113
Recent progress in human pluripotent stem cell (hPSC) and genome editing technologies has opened up new avenues for the investigation of human biology in health and disease as well as the development of therapeutic applications. Gene editing approach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcebcc7a442e9c1020f1079c00825d67
https://pub.dzne.de/record/138563
https://pub.dzne.de/record/138563
Autor:
Bisan Mehdawy, Robert Nisticò, Margherita Ruoppolo, Lucio Pastore, Alessandro Usiello, Francesco Salvatore, Monica Cerreto, Aurora Daniele, Daniela Ombrone
Publikováno v:
Scopus-Elsevier
"Phenylketonuria (PKU) is one of the most common inborn errors of metabolism and is due to a deficit of phenylalanine hydroxylase, the enzyme that converts phenylalanine (Phe) into tyrosine (Tyr). The resultant hyperphenylalaninemia (HPA) leads to se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e944b9526184cfa7b644d2a5ed7bd5e
https://pubmed.ncbi.nlm.nih.gov/22348550
https://pubmed.ncbi.nlm.nih.gov/22348550
Autor:
Deniz Kirik, Ayse Ulusoy
Publikováno v:
Therapeutic Delivery 2(1), 37-50 (2011). doi:10.4155/tde.10.95
The last decade witnessed the translation of several gene-based therapeutic approaches from experimental studies to early clinical trials. Studies targeting the treatment of Parkinson’s disease (PD) were among the forefront of trials in the CNS. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b65c97ab75699f92e225b67dc6ce54