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Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo 双靶向CRISPR-CasRx在体外和体内均可降低C9orf72 ALS/FTD正义和反义重复RNA水平。 Kempthorne, Liam; Vaizoglu, Deniz; Cammack, Alexander J.; Carcole, Mireia; Roberts, Martha J.; Mikheenko, Alla; Fisher, Alessia; Suklai, Pacharaporn; Muralidharan, Bhavana; Kroll, Francois; Moens, Thomas G.; Yshii, Lidia; Verschoren, Stijn; Holbling, Benedikt V.; Moreira, Francisco C.; Katona, Eszter; Coneys, Rachel; de Oliveira, Paula; Zhang, Yong-Jie; Jansen, Karen; Daughrity, Lillian M.; Mcgown, Alexander; Ramesh, Tennore M.; van den Bosch, Ludo; Lignani, Gabriele; Rahim, Ahad A.; Coyne, Alyssa N.; Petrucelli, Leonard; Rihel, Jason 分享 收藏
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Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients Deneubourg, Celine; Salimi Dafsari, Hormos; Lowe, Simon; Martinez-Cotrina, Aitana; Mazaud, David; Park, Seo Hyun; Vergani, Virginia; Almacellas Barbanoj, Amanda; Maroofian, Reza; Averdunk, Luisa; Ghayoor-Karimiani, Ehsan; Jayawant, Sandeep; Mignot, Cyril; Keren, Boris; Peters, Renate; Kamath, Arveen; Mattas, Lauren; Verma, Sumit; Silwal, Arpana; Distelmaier, Felix; Houlden, Henry; Lignani, Gabriele; Antebi, Adam; Jepson, James; Jungbluth, Heinz; Fanto, Manolis 分享 收藏
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Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy Abela, Lucia; Gianfrancesco, Lorita; Tagliatti, Erica; Rossignoli, Giada; Barwick, Katy; Zourray, Clara; Reid, Kimberley M.; Budinger, Dimitri; Ng, Joanne; Counsell, John; Simpson, Arlo; Pearson, Toni S.; Edvardson, Simon; Elpeleg, Orly; Brodsky, Frances M.; Lignani, Gabriele; Barral, Serena; Kurian, Manju A. 分享 收藏
Anti-seizure gene therapy for focal cortical dysplasia 局灶性皮质发育不良的抗惊厥基因治疗 Barbanoj, Amanda Almacellas; Graham, Robert T.; Maffei, Benito; Carpenter, Jenna C.; Leite, Marco; Hoke, Justin; Hardjo, Felisia; Scott-Solache, James; Chimonides, Christos; Schorge, Stephanie; Kullmann, Dimitri M.; Magloire, Vincent; Lignani, Gabriele 分享 收藏
Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability Sampedro-Castaneda, Marisol; Baltussen, Lucas L.; Lopes, Andre T.; Qiu, Yichen; Sirvio, Liina; Mihaylov, Simeon R.; Claxton, Suzanne; Richardson, Jill C.; Lignani, Gabriele; Ultanir, Sila K. 分享 收藏
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Ca2+ binding to synapsin I regulates resting Ca2+ and recovery from synaptic depression in nerve terminals Ca2与突触素I的结合调节静息Ca2和神经末梢突触抑制的恢复 Moschetta, Matteo; Ravasenga, Tiziana; De Fusco, Antonio; Maragliano, Luca; Aprile, Davide; Orlando, Marta; Sacchetti, Silvio; Casagrande, Silvia; Lignani, Gabriele; Fassio, Anna; Baldelli, Pietro; Benfenati, Fabio 分享 收藏
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Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome Valassina, Nicholas; Brusco, Simone; Salamone, Alessia; Serra, Linda; Luoni, Mirko; Giannelli, Serena; Bido, Simone; Massimino, Luca; Ungaro, Federica; Mazzara, Pietro Giuseppe; D'Adamo, Patrizia; Lignani, Gabriele; Broccoli, Vania; Colasante, Gaia 分享 收藏