Novel Cross-Correction-Enabled Gene Therapy for CDKL5-Deficiency Disorder.
作者信息
Nitschke Felix, Montalbano Alina P
机构信息
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX, USA.
出版信息
Neurotherapeutics. 2022 Oct;19(6):1878-1882. doi: 10.1007/s13311-022-01314-8. Epub 2022 Oct 20.
Abstract
摘要
相似文献
1
Novel Cross-Correction-Enabled Gene Therapy for CDKL5-Deficiency Disorder.用于CDKL5缺陷障碍的新型启用交叉校正的基因疗法。
Neurotherapeutics. 2022 Oct;19(6):1878-1882. doi: 10.1007/s13311-022-01314-8. Epub 2022 Oct 20.
2
Preclinical studies of gene replacement therapy for CDKL5 deficiency disorder.针对CDKL5缺乏症的基因替代疗法的临床前研究。
Mol Ther. 2024 Oct 2;32(10):3331-3345. doi: 10.1016/j.ymthe.2024.07.012. Epub 2024 Jul 20.
3
Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder.分泌型、穿膜的 CDKL5 蛋白的表达增强了 CDKL5 缺乏症基因治疗的疗效。
Neurotherapeutics. 2022 Oct;19(6):1886-1904. doi: 10.1007/s13311-022-01295-8. Epub 2022 Sep 15.
4
CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder.CDKL5 蛋白替代疗法可挽救 CDKL5 障碍小鼠模型的神经表型。
Hum Mol Genet. 2018 May 1;27(9):1572-1592. doi: 10.1093/hmg/ddy064.
5
CDKL5 Deficiency Augments Inhibitory Input into the Dentate Gyrus That Can Be Reversed by Deep Brain Stimulation.CDKL5 缺乏症增强了齿状回的抑制性输入，这种输入可通过深部脑刺激逆转。
J Neurosci. 2021 Oct 27;41(43):9031-9046. doi: 10.1523/JNEUROSCI.1010-21.2021. Epub 2021 Sep 20.
6
Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.剪接突变影响 CDKL5 的表达和活性，可通过 U1snRNA 为基础的治疗方法有效地进行挽救。
Int J Mol Sci. 2019 Aug 24;20(17):4130. doi: 10.3390/ijms20174130.
7
Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.老年杂合性 Cdkl5 突变小鼠表现出自发性癫痫痉挛。
Exp Neurol. 2020 Oct;332:113388. doi: 10.1016/j.expneurol.2020.113388. Epub 2020 Jun 22.
8
Molecular and Synaptic Bases of CDKL5 Disorder.CDKL5 障碍的分子和突触基础。
Dev Neurobiol. 2019 Jan;79(1):8-19. doi: 10.1002/dneu.22639. Epub 2018 Oct 19.
9
Hypermotor-tonic-spasms seizure sequence related to CDKL5 deficiency disorder: a typical case.与CDKL5缺乏症相关的运动亢进-张力亢进-痉挛发作序列：一例典型病例。
Epileptic Disord. 2022 Dec 1;24(6):1127-1128. doi: 10.1684/epd.2022.1480.
10
CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.CDKL5缺乏症：处于雷特综合征与发育性癫痫性脑病的交叉点。
Dev Med Child Neurol. 2024 Apr;66(4):410-411. doi: 10.1111/dmcn.15797. Epub 2023 Oct 26.
本文引用的文献
1
Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder.分泌型、穿膜的 CDKL5 蛋白的表达增强了 CDKL5 缺乏症基因治疗的疗效。
Neurotherapeutics. 2022 Oct;19(6):1886-1904. doi: 10.1007/s13311-022-01295-8. Epub 2022 Sep 15.
2
Advancing the Research and Development of Enzyme Replacement Therapies for Lysosomal Storage Diseases.推进溶酶体贮积症酶替代疗法的研发
GEN Biotechnol. 2022 Apr;1(2):156-162. doi: 10.1089/genbio.2021.0013. Epub 2022 Apr 20.
3
Cell-penetrating peptides in the intracellular delivery of viral nanoparticles.细胞穿透肽在病毒纳米颗粒的细胞内递送中的应用。
Vitam Horm. 2021;117:47-76. doi: 10.1016/bs.vh.2021.06.010. Epub 2021 Jul 21.
4
Inhibition of microglia overactivation restores neuronal survival in a mouse model of CDKL5 deficiency disorder.抑制小胶质细胞过度激活可恢复 CDKL5 缺乏症模型中小鼠神经元的存活。
J Neuroinflammation. 2021 Jul 8;18(1):155. doi: 10.1186/s12974-021-02204-0.
5
Unravelling cytosolic delivery of cell penetrating peptides with a quantitative endosomal escape assay.解析细胞穿透肽的细胞质递送及其定量内涵体逃逸测定。
Nat Commun. 2021 Jun 17;12(1):3721. doi: 10.1038/s41467-021-23997-x.
6
Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development.基因治疗溶酶体贮积症：正在进行的研究和临床开发。
Biomolecules. 2021 Apr 20;11(4):611. doi: 10.3390/biom11040611.
7
Liposome Click Membrane Permeability Assay for Identifying Permeable Peptides.脂质体点击膜通透性测定法鉴定通透肽。
Pharm Res. 2021 May;38(5):843-850. doi: 10.1007/s11095-021-03005-z. Epub 2021 Mar 15.
8
Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients.基于 48 例患者 6 年治疗经验制定的“汉堡 CLN2 病脑苷脂酶替代治疗（ERT）最佳实践指南”。
J Child Neurol. 2021 Jul;36(8):635-641. doi: 10.1177/0883073821989154. Epub 2021 Feb 5.
9
Complications associated with intrathecal drug delivery systems.鞘内药物输送系统相关并发症。
BJA Educ. 2020 Feb;20(2):51-57. doi: 10.1016/j.bjae.2019.11.002. Epub 2019 Dec 12.
10
Cell-penetrating peptides (CPPs): an overview of applications for improving the potential of nanotherapeutics.细胞穿透肽（CPPs）：提高纳米治疗药物潜力的应用概述
Biomater Sci. 2021 Feb 23;9(4):1153-1188. doi: 10.1039/d0bm01755h.
Zotero 插件