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Reading through the nonsense: Gentamicin and ELX-02 as rescuing therapies for epidermolysis bullosa.

作者信息

Anderson-Crannage Morgan, Cairo Mitchell S, Liao Yanling

机构信息

Department of Pediatrics, New York Medical College, Valhalla, NY 10595, USA.

Department of Cell Biology and Anatomy, New York Medical College, Valhalla, NY 10595, USA.

出版信息

Mol Ther Nucleic Acids. 2024 Nov 13;35(4):102368. doi: 10.1016/j.omtn.2024.102368. eCollection 2024 Dec 10.

DOI:10.1016/j.omtn.2024.102368
PMID:39629116
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11613416/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c9d/11613416/c35e873e3d2f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c9d/11613416/c35e873e3d2f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c9d/11613416/c35e873e3d2f/gr1.jpg

相似文献

1
Reading through the nonsense: Gentamicin and ELX-02 as rescuing therapies for epidermolysis bullosa.识破谬论：庆大霉素和ELX - 02作为大疱性表皮松解症的挽救疗法
Mol Ther Nucleic Acids. 2024 Nov 13;35(4):102368. doi: 10.1016/j.omtn.2024.102368. eCollection 2024 Dec 10.
2
Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.新型通读剂可抑制大疱性表皮松解症中的无义突变，并恢复功能性VII型胶原蛋白和层粘连蛋白332。
Mol Ther Nucleic Acids. 2024 Sep 10;35(4):102334. doi: 10.1016/j.omtn.2024.102334. eCollection 2024 Dec 10.
3
Intravenous gentamicin therapy induces functional type VII collagen in patients with recessive dystrophic epidermolysis bullosa: an open-label clinical trial.静脉注射庆大霉素治疗隐性营养不良型大疱性表皮松解症患者诱导功能性 VII 型胶原产生：一项开放性临床试验。
Br J Dermatol. 2024 Jul 16;191(2):267-274. doi: 10.1093/bjd/ljae063.
4
Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients.庆大霉素可诱导隐性营养不良型大疱性表皮松解症患者产生功能性VII型胶原蛋白。
J Clin Invest. 2017 Aug 1;127(8):3028-3038. doi: 10.1172/JCI92707. Epub 2017 Jul 10.
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Gentamicin induces nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.庆大霉素诱导无义突变通读并恢复连接性大疱性表皮松解症中的功能性层粘连蛋白 332。
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Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants.静脉注射庆大霉素治疗无义变异型交界性大疱性表皮松解症患者的分子和临床结局。
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Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.庆大霉素诱导层粘连蛋白 332 的表达并改善无义突变型交界型大疱性表皮松解症患者的伤口愈合。
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本文引用的文献

1
Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.新型通读剂可抑制大疱性表皮松解症中的无义突变，并恢复功能性VII型胶原蛋白和层粘连蛋白332。
Mol Ther Nucleic Acids. 2024 Sep 10;35(4):102334. doi: 10.1016/j.omtn.2024.102334. eCollection 2024 Dec 10.
2
Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants.静脉注射庆大霉素治疗无义变异型交界性大疱性表皮松解症患者的分子和临床结局。
JAMA Dermatol. 2022 Apr 1;158(4):366-374. doi: 10.1001/jamadermatol.2021.5992.
3
A Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Escalation Study to Evaluate the Safety and Pharmacokinetics of ELX-02 in Healthy Subjects.
一项评估ELX-02在健康受试者中安全性和药代动力学的随机、双盲、安慰剂对照、多剂量递增研究。
Clin Pharmacol Drug Dev. 2021 Aug;10(8):859-869. doi: 10.1002/cpdd.914. Epub 2021 Jan 19.
4
Phase 1 Renal Impairment Trial Results Supports Targeted Individualized Dosing of ELX-02 in Patients With Nephropathic Cystinosis.1 期肾功能损害试验结果支持对胱氨酸病患者进行 ELX-02 的靶向个体化剂量给药。
J Clin Pharmacol. 2021 Jul;61(7):923-931. doi: 10.1002/jcph.1807. Epub 2021 Jan 18.
5
Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.庆大霉素诱导层粘连蛋白 332 的表达并改善无义突变型交界型大疱性表皮松解症患者的伤口愈合。
Mol Ther. 2020 May 6;28(5):1327-1338. doi: 10.1016/j.ymthe.2020.03.006. Epub 2020 Mar 17.
6
Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses of ELX-02, a Potential Treatment for Genetic Disorders Caused by Nonsense Mutations, in Healthy Volunteers.ELX-02 单剂量递增给药的安全性、耐受性和药代动力学研究，ELX-02 是一种治疗由无义突变引起的遗传疾病的潜在药物，在健康志愿者中进行。
Clin Pharmacol Drug Dev. 2019 Nov;8(8):984-994. doi: 10.1002/cpdd.647. Epub 2019 Jan 16.
7
Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients.庆大霉素可诱导隐性营养不良型大疱性表皮松解症患者产生功能性VII型胶原蛋白。
J Clin Invest. 2017 Aug 1;127(8):3028-3038. doi: 10.1172/JCI92707. Epub 2017 Jul 10.
8
Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.76例重症泛发性交界型大疱性表皮松解症婴儿的基因型、临床病程及治疗决策
J Invest Dermatol. 2016 Nov;136(11):2150-2157. doi: 10.1016/j.jid.2016.06.609. Epub 2016 Jun 29.
9
Inherited epidermolysis bullosa: new diagnostic criteria and classification.遗传性大疱性表皮松解症：新的诊断标准和分类。
Clin Dermatol. 2012 Jan-Feb;30(1):70-7. doi: 10.1016/j.clindermatol.2011.03.012.