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

Liver-directed AAV gene therapy normalizes disease symptoms and provides cross-correction in a model of lysosomal acid lipase deficiency.

肝脏靶向 AAV 基因疗法可使疾病症状正常化,并在溶酶体酸性脂肪酶缺乏症模型中提供交叉纠正

Lam Patricia, Zygmunt Deborah A, Ashbrook Anna, Yan Cong, Du Hong, Martin Paul T

Dual FKRP/FST gene therapy normalizes ambulation, increases strength, decreases pathology, and amplifies gene expression in LGMDR9 mice.

双重 FKRP/FST 基因疗法可使 LGMDR9 小鼠恢复正常行走能力,增强力量,减少病理变化,并增强基因表达

Lam Patricia, Zygmunt Deborah A, Ashbrook Anna, Bennett Macey, Vetter Tatyana A, Martin Paul T

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity

一项针对肌营养不良症患者行走能力丧失的全基因组关联分析表明,存在多个可能影响疾病严重程度的候选修饰因子。

Flanigan, Kevin M; Waldrop, Megan A; Martin, Paul T; Alles, Roxane; Dunn, Diane M; Alfano, Lindsay N; Simmons, Tabatha R; Moore-Clingenpeel, Melissa; Burian, John; Seok, Sang-Cheol; Weiss, Robert B; Vieland, Veronica J

rAAVrh74.MCK.GALGT2 Protects against Loss of Hemodynamic Function in the Aging mdx Mouse Heart.

rAAVrh74.MCK.GALGT2 可保护衰老的 mdx 小鼠心脏免受血流动力学功能丧失的影响

Xu Rui, Jia Ying, Zygmunt Deborah A, Martin Paul T

rAAVrh74.MCK.GALGT2 Demonstrates Safety and Widespread Muscle Glycosylation after Intravenous Delivery in C57BL/6J Mice

rAAVrh74.MCK.GALGT2 在 C57BL/6J 小鼠静脉注射后显示出安全性和广泛的肌肉糖基化作用

Zygmunt, Deborah A; Xu, Rui; Jia, Ying; Ashbrook, Anna; Menke, Chelsea; Shao, Guohong; Yoon, Jung Hae; Hamilton, Sonia; Pisharath, Harshan; Bolon, Brad; Martin, Paul T

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

B4GALT7 连接子病表型扩展至包括围产期致死性骨骼发育不良

Mihalic Mosher, Theresa; Zygmunt, Deborah A; Koboldt, Daniel C; Kelly, Benjamin J; Johnson, Lisa R; McKenna, David S; Hood, Benjamin C; Hickey, Scott E; White, Peter; Wilson, Richard K; Martin, Paul T; McBride, Kim L

An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque

一种离体肢体输注方法可使 rAAVrh74.MCK.GALGT2 广泛分布于恒河猴腿部骨骼肌中。

Xu, Rui; Jia, Ying; Zygmunt, Deborah A; Cramer, Megan L; Crowe, Kelly E; Shao, Guohong; Maki, Agatha E; Guggenheim, Haley N; Hood, Benjamin C; Griffin, Danielle A; Peterson, Ellyn; Bolon, Brad; Cheatham, John P; Cheatham, Sharon L; Flanigan, Kevin M; Rodino-Klapac, Louise R; Chicoine, Louis G; Martin, Paul T

Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans.

小鼠骨骼肌纤维中 Pofut1 的缺失会顺式和反式诱导肌肉衰老相关表型

Zygmunt Deborah A, Singhal Neha, Kim Mi-Lyang, Cramer Megan L, Crowe Kelly E, Xu Rui, Jia Ying, Adair Jessica, Martinez-Pena Y Valenzuela Isabel, Akaaboune Mohammed, White Peter, Janssen Paulus M, Martin Paul T

Complex formation between S100B protein and the p90 ribosomal S6 kinase (RSK) in malignant melanoma is calcium-dependent and inhibits extracellular signal-regulated kinase (ERK)-mediated phosphorylation of RSK

恶性黑色素瘤中 S100B 蛋白与 p90 核糖体 S6 激酶 (RSK) 之间的复合物形成是钙依赖性的,并抑制细胞外信号调节激酶 (ERK) 介导的 RSK 磷酸化

Kira G Hartman, Michele I Vitolo, Adam D Pierce, Jennifer M Fox, Paul Shapiro, Stuart S Martin, Paul T Wilder, David J Weber

N-Glycolylneuraminic acid deficiency worsens cardiac and skeletal muscle pathophysiology in α-sarcoglycan-deficient mice.

N-糖基神经氨酸缺乏会加重α-肌聚糖缺乏小鼠的心脏和骨骼肌病理生理

Martin Paul T, Camboni Marybeth, Xu Rui, Golden Bethannie, Chandrasekharan Kumaran, Wang Chiou-Miin, Varki Ajit, Janssen Paul M L