Zobrazeno 1 - 10
of 307
pro vyhledávání: '"Gene replacement therapy"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101035- (2024)
Inherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure. With debilitating morbidity and significant mortality, it is imperative to explore novel, safe, and eff
Externí odkaz:
https://doaj.org/article/d41aef350c394227aee71af1f7777a11
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionSpinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Nova
Externí odkaz:
https://doaj.org/article/3d1fe16a3d9f4da3b4088f865c2517a8
Publikováno v:
Frontiers in Medicine, Vol 10 (2024)
Leber congenital amaurosis (LCA) is the most common genetic cause of congenital visual impairment in infants and children. Patients with LCA who harbor RPE65 mutations exhibit a deficiency in photoreceptor rhodopsin, leading to severe night blindness
Externí odkaz:
https://doaj.org/article/326596c217744fc7b154b672df4f3f5b
Autor:
Jessika Johannsen, Deike Weiss, Joenna Driemeyer, Jakob Olfe, Fridrike Stute, Ferdinand Müller, Marion Schütt, Regina Trollmann, Heike Kölbel, Ulrike Schara-Schmidt, Janbernd Kirschner, Astrid Pechmann, Astrid Blaschek, Veronka Horber, Jonas Denecke
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundSpinal muscular atrophy (SMA) is a genetic neurodegenerative disease leading to muscular weakness and premature death. Three therapeutic options are currently available including gene replacement therapy (GRT), which is potentially cardioto
Externí odkaz:
https://doaj.org/article/961eb555acfe465cbeee9c0cb3171c48
Autor:
Anna A. Kokorina, Sergei S. Nikitin
Publikováno v:
Вопросы современной педиатрии, Vol 21, Iss 6S, Pp 535-547 (2023)
Background. Onasemnogene abeparvovec is the first gene replacement therapy medication based on the adeno-associated viral vector (AAV9). One injection to a patient with 5q spinal muscular atrophy (SMA) leads to replacement of the missing or defective
Externí odkaz:
https://doaj.org/article/f435118334e84e26ba465e70248185d0
Akademický článek
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Akademický článek
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Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 2, Pp 28-36 (2022)
This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the period 2000–2020 was 195 954, and the prevalence of spinal muscular atrophy 5q among new
Externí odkaz:
https://doaj.org/article/e357e303fc41434c8575f29408ee80be
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 1, Pp 29-38 (2022)
Objective: to analyze the safety and evaluate the effectiveness of therapy with onasemnogene abeparvovec in patients with spinal muscular atrophy in real clinical practice based on the experience of using the drug in the neuromuscular center of Resea
Externí odkaz:
https://doaj.org/article/6276223fdb8a499b8c16194dd6ea2578
Autor:
John W. Day, Richard S. Finkel, Eugenio Mercuri, Kathryn J. Swoboda, Melissa Menier, Rudolf van Olden, Sitra Tauscher-Wisniewski, Jerry R. Mendell
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss , Pp 76-82 (2021)
Spinal muscular atrophy is a progressive, recessively inherited monogenic neurologic disease, the genetic root cause of which is the absence of a functional survival motor neuron 1 gene. Onasemnogene abeparvovec (formerly AVXS-101) is an adeno-associ
Externí odkaz:
https://doaj.org/article/fc9cb7ce21554effb0ed645d59c6f745