Gene editing for collagen disorders: current advances and future perspectives [0.03%]
基因编辑与胶原蛋白疾病：目前进展及未来展望
Klaudia Kocsy,Harry Wilkinson,Favour Felix-Ilemhenbhio et al.
Klaudia Kocsy et al.
Collagen disorders encompass a wide range of genetic conditions caused by pathogenic variants in collagen genes for which there is an unmet need for treatments. They present various clinical features, ranging from localised tissue abnormali...
Visualising treatment effects in low-vision settings: proven and potential endpoints for clinical trials of inherited retinal disease therapies [0.03%]
遗传性视网膜疾病治疗临床试验的有效和潜在终点：低视力环境下视觉功能改善的可视化评估
Arun J Thirunavukarasu,Shabnam Raji,Jasmina Cehajic Kapetanovic
Arun J Thirunavukarasu
Inherited retinal diseases are a devasting and incurable cause of blindness which frequently affect patients at a young age, and developing effective treatments has been an important research priority in recent decades. Treatments must be v...
Preclinical safety and biodistribution of SPVN06, a novel gene- and mutation-independent gene therapy for rod-cone dystrophies [0.03%]
SPVN06的药效学安全性和生物分布研究：一种针对视网膜杆锥营养不良的新一代基因和突变无关型基因治疗方案
Mélanie Marie,Lucie Churet,Anne-Sophie Gautron et al.
Mélanie Marie et al.
Rod-cone dystrophies (RCD) are caused by mutations in over 100 genes associated with photoreceptor function, leading to progressive and sequential loss of rod and cone photoreceptors. These mutations generally disrupt retinal metabolism and...
Dystrophin/mini-dystrophin expression analysis by immunoaffinity liquid chromatography-tandem mass spectrometry after gene therapy for DMD [0.03%]
用于DMD基因治疗后的免疫亲和液相色谱-串联质谱法检测抗肌萎缩蛋白/微抗肌萎缩蛋白的表达分析
Jason Walsh,Joe Palandra,Nicole Duriga et al.
Jason Walsh et al.
Adeno-associated virus (AAV)-based gene replacement therapies in Duchenne muscular dystrophy (DMD) aim to restore dystrophin function via the introduction of micro- or mini-dystrophins. We report dystrophin and mini-dystrophin concentration...
Gene editing for Spinocerebellar ataxia type 3 taking advantage of the human ATXN3L paralog as replacement gene [0.03%]
利用人类ATXN3L旁系基因进行脊髓小脑共济失调基因编辑治疗研究
Margareta Rybarikova,Maria Rey,Ed Hasanovic et al.
Margareta Rybarikova et al.
Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disease caused by a CAG expansion of the ataxin-3 gene (ATXN3). SCA3 patients suffer from ataxia, spasticity and dystonia in mid-adulthood, with spinocerebellar dysfunction an...
AAV9-mediated transduction of memory circuits following convection-enhanced delivery into the olfactory bulbs [0.03%]
经对侧嗅球脑室内注射的载体病毒向嗅觉记忆环路的有效递送
Theodore Dimitrov,Vikas Munjal,Allison O&#x;Brien et al.
Theodore Dimitrov et al.
This study explores the potential of adeno-associated virus serotype 9 (AAV9) to deliver therapeutic genes directly into the memory circuit throughout the olfactory bulb (OB), a critical memory and sensory processing region. Using convectio...
High-throughput evaluation of cardiac-specific promoters for adeno-associated virus mediated cardiac gene therapy [0.03%]
腺相关病毒介导的心肌基因治疗的高通量评估心肌特异性启动子
Dhanya Ravindran,Renuka Rao,Juan Mundisugih et al.
Dhanya Ravindran et al.
The selection of an appropriate promoter is important to the design and optimisation of adeno-associated viral (AAV) vector-based cardiac gene therapies. The expression cassette design can impact efficacy and safety of the vector. This stud...
hInGeTox: a human-based in vitro platform to evaluate lentivirus/host interactions that contribute to genotoxicity [0.03%]
人源体外平台评估导致遗传毒性的慢病毒/宿主相互作用的HinGentoX研究项目
Saqlain Suleman,Sharmin Alhaque,Andrew Guo et al.
Saqlain Suleman et al.
Lentivirus vectors are effective for treatment of genetic disease. However, safety associated with vector related genotoxicity is of concern and currently available models are not reliably predictive of safety in humans. We have developed h...
Transabdominal ultrasound guided AAV9-GFP delivery in fetal pigs: a translational and minimally invasive model for in utero fetal gene therapy [0.03%]
腹部超声引导AAV9-GFP胎儿猪产前基因治疗的体内研究模型
Alessia Di Donfrancesco,Alessia Adelizzi,Anastasia Giri et al.
Alessia Di Donfrancesco et al.
In utero fetal gene therapy (IUFGT) has the potential to correct severe monogenic disorders before irreversible damage occurs. Despite promising results in small and large animal models, its translation to clinical practice remains limited ...
Nanoparticle hydrogel system delivery of miR-494-3p to improve tendon healing by targeting CXXC4 [0.03%]
纳米凝胶系统递送miR-494-3p载荷以靶向CXXC4来改善肌腱愈合
Gu Heng Wang,Lei Wang,Lei Sheng et al.
Gu Heng Wang et al.
Due to the poor healing capacity of tendons, the healing process is slow, with a risk of re-rupture post-injury. In this study, we found that miR-494-3p was one of the miRNAs with significant expression differences after tendon injury by se...