日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Intracerebroventricular SPAST-AAV9 gene therapy prevents manifestation of symptoms in a mouse model of SPG4 hereditary spastic paraplegia.

脑室内 SPAST-AAV9 基因治疗可预防 SPG4 遗传性痉挛性截瘫小鼠模型出现症状。

Piermarini Emanuela, Guha Shrobona, Qiang Liang, Gray-Edwards Heather, Sena-Esteves Miguel, Baas Peter W

An siRNA targeting S6k1 identifies photoreceptor phospholipid metabolism as a contributor to lipid buildup in age-related macular degeneration.

针对 S6k1 的 siRNA 发现光感受器磷脂代谢是导致年龄相关性黄斑变性中脂质积累的因素之一。

Cheng Shun-Yun, Giguere Delaney, Kim San, Seddon Johanna M, Caiazzi Jillian, Gross Katherine, McHugh Nicholas, Echeverria Dimas, Alterman Julia F, Gray-Edwards Heather, Benatti Hector Ribeiro, Renner Lauren, Woolard Hannah, Stoddard Jonathan, McGill Trevor J, Neuringer Martha, Brush Richard S, Agbaga Martin-Paul, Khvorova Anastasia, Punzo Claudio

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial

双载体rAAVrh8基因疗法治疗GM2神经节苷脂沉积症:一项1/2期试验

Eichler, Florian; Cataltepe, Oguz I; Daci, Rrita; Puri, Ajit S; Taghian, Toloo; Jiang, Xuntian; Shazeeb, Mohammed Salman; Kuhn, Anna; Hader, Asma; Celik, Hakki; Vardar, Zeynep; Lewis, Connor J; Artinian, Rebecca; Nagy, Amanda; Vachha, Behroze; Thompson, Robert; Gallagher, Thomas; Bateman, Scot; Parzych, Julia; Spanakis, Spiro G; Vaughn, Toby A; Pier, Kirsten; De Boever, Erika; Abbott, Mary-Alice; D Ambrosio, Eleonora; Kokoski, Danielle; Blackwood, Meghan; Drummond, Elise; Ratai, Eva-Maria; Townsend, Elise L; McLaughlin, Haley; Tifft, Cynthia J; Keeler, Allison M; Sena-Esteves, Miguel; Gray-Edwards, Heather L; Flotte, Terence R

Treatment of a severe vascular disease using a bespoke CRISPR-Cas9 base editor in mice.

利用定制的 CRISPR-Cas9 碱基编辑器治疗小鼠的严重血管疾病。

Alves Christiano R R, Das Sabyasachi, Krishnan Vijai, Ha Leillani L, Fox Lauren R, Stutzman Hannah E, Shamber Claire E, Kalailingam Pazhanichamy, McCarthy Siobhan, Lino Cardenas Christian L, Fong Claire E, Imai Takahiko, Mitra Sunayana, Yun Shuqi, Wood Rachael K, Benning Friederike M C, Roh Kangsan, Lawton Joseph, Kim Nahye, Silverstein Rachel A, Ferreira da Silva Joana, de la Cruz Demitri, Richa Rashmi, Xie Jun, Gray-Edwards Heather L, Malhotra Rajeev, Chung David Y, Chao Luke H, Tsai Shengdar Q, Maguire Casey A, Lindsay Mark E, Kleinstiver Benjamin P, Musolino Patricia L

Five-year analysis of efficacy and safety of a bidirectional AAV gene therapy in Tay-Sachs sheep.

对泰-萨克斯绵羊进行双向 AAV 基因治疗的五年疗效和安全性分析。

Taghian Toloo, Gallagher Jillian, Bertrand Stephanie, Baker William C, Lopez Mercado Kalajan, Benatti Hector R, Hall Erin, Lopez Yvette, McElroy Abigail, McCarthy John T, Pulaparthi Sanjana, Fernau Deborah, Mather Samuel, Esteves Sophia, Diffie Elise, Gross Amanda, Lahey Hannah G, Jiang Xuntian, Parsley Elizabeth, Gately Rachael, Prestigiacomo Rachel, Johnson Siauna, Taylor Amanda, Bierfeldt Lindsey, Tuominen Susan, Koehler Jennifer, Gao Guangping, Xie Jun, Su Qin, King Robert, Gounis Matthew J, Anagnostakou Vania, Puri Ajit, Batista Ana Rita, Sena-Esteves Miguel, Martin Douglas R, Gray-Edwards Heather

Cerebrospinal Fluid Flow Enhancement (CFE) Increases the Spatial Distribution of Methotrexate after Intracerebroventricular Administration in a Sheep Model

在绵羊模型中,脑脊液流动增强(CFE)可增加脑室内注射甲氨蝶呤后其在体内的空间分布。

Benatti, Hector Ribeiro; Taghian, Toloo; Mihalek, Olivia; Nath, Sarah; Gallagher, Jillian; McElroy, Abigail; Hall, Erin F; Daci, Rrita; Yingling, Nathan K; Baker, William C; Tuominen, Susan; Bierfeldt, Lindsey; Jiang, Xuntian; Gray-Edwards, Heather L; Sirianni, Rachael W

Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabolism 2025 Mar;144(3):109025]

对“II 型晚期婴儿和青少年 GM1 神经节苷脂病患者的 MRI 脑体积自然史进展”的更正 [分子遗传学和代谢 2025 年 3 月;144(3):109025]

Kolstad, Josephine; Zoppo, Christopher; Johnston, Jean M; D'Souza, Precilla; Kühn, Anna Luisa; Vardar, Zeynep; Peker, Ahmet; Hader, Asma; Celik, Hakki; Lewis, Connor J; Lindsay, Clifford; Rentiya, Zubir S; Lebel, Catherine; Vedantham, Srinivasan; Vachha, Behroze; Gray-Edwards, Heather L; Acosta, Maria T; Tifft, Cynthia J; Shazeeb, Mohammed Salman

Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases

溶酶体贮积症中溶酶体-血小板激活因子的继发性积累

Kell, Pamela; Mishra, Sonali; Gray-Edwards, Heather L; Martin, Douglas R; Gaudioso, Angel; Ledesma, María Dolores; Bongarzone, Ernesto R; Sands, Mark S; Sidransky, Ellen; Ory, Daniel S; Jiang, Xuntian

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients

II型晚期婴儿期和青少年期GM1神经节苷脂沉积症患者的MRI脑容量自然史进展

Kolstad, Josephine; Zoppo, Christopher; Johnston, Jean M; D'Souza, Precilla; Kühn, Anna Luisa; Vardar, Zeynep; Peker, Ahmet; Hader, Asma; Celik, Hakki; Lewis, Connor J; Lindsay, Clifford; Rentiya, Zubir S; Lebel, Catherine; Vedantham, Srinivasan; Vachha, Behroze; Gray-Edwards, Heather L; Acosta, Maria T; Tifft, Cynthia J; Shazeeb, Mohammed Salman

Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency

猫GM2激活剂缺乏症模型中的临床和生化异常

Beecy, Sidney J; Gross, Amanda L; Maguire, Anne S; Hoffman, Leah M K; Diffie, Elise B; Cuddon, Paul; Kell, Pamela; Jiang, Xuntian; Gray-Edwards, Heather L; Martin, Douglas R