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

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency

临床前使用临床相关的 scAAV9/SUMF1 载体治疗多种硫酸酯酶缺乏症

Maximiliano Presa #, Rachel M Bailey #, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J Gray, Cathleen Lutz

Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia

ALS-PFN1的表达会损害iPSC衍生小胶质细胞中的囊泡降解

Salome Funes # ,Jonathan Jung # ,Del Hayden Gadd ,Michelle Mosqueda ,Jianjun Zhong ,Shankaracharya ,Matthew Unger ,Karly Stallworth ,Debra Cameron ,Melissa S Rotunno ,Pepper Dawes ,Megan Fowler-Magaw ,Pamela J Keagle ,Justin A McDonough ,Sivakumar Boopathy ,Miguel Sena-Esteves ,Jeffrey A Nickerson ,Cathleen Lutz ,William C Skarnes ,Elaine T Lim ,Dorothy P Schafer ,Francesca Massi ,John E Landers ,Daryl A Bosco

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency

造血干细胞基因疗法改善了具有临床意义的多发性硫酸酯酶缺乏症小鼠模型的预后。

Vi Pham ,Lucas Tricoli ,Xinying Hong ,Parith Wongkittichote ,Carlo Castruccio Castracani ,Amaliris Guerra ,Lars Schlotawa ,Laura A Adang ,Amanda Kuhs ,Margaret M Cassidy ,Owen Kane ,Emily Tsai ,Maximiliano Presa ,Cathleen Lutz ,Stefano B Rivella ,Rebecca C Ahrens-Nicklas

Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy

孔域 KCNQ2 脑病的多种分子和细胞机制

Timothy J Abreo, Emma C Thompson, Anuraag Madabushi, Heun Soh, Nissi Varghese, Carlos G Vanoye, Kristen Springer, Kristen L Park, Jim Johnson, Scotty Sims, Zhigang Ji, Ana G Chavez, Miranda J Jankovic, Bereket Habte, Aamir R Zuberi, Cathleen Lutz, Zhao Wang, Vaishnav Krishnan, Lisa Dudler, Stephanie

Into the Wild: A novel wild-derived inbred strain resource expands the genomic and phenotypic diversity of laboratory mouse models

走进野外:一种新型野生近交系资源扩大了实验室小鼠模型的基因组和表型多样性

Beth L Dumont, Daniel M Gatti, Mallory A Ballinger, Dana Lin, Megan Phifer-Rixey, Michael J Sheehan, Taichi A Suzuki, Lydia K Wooldridge, Hilda Opoku Frempong, Raman Akinyanju Lawal, Gary A Churchill, Cathleen Lutz, Nadia Rosenthal, Jacqueline K White, Michael W Nachman0

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model

骨髓移植可增加多种硫酸酯酶缺乏症小鼠模型中体细胞组织中的硫酸酯酶活性

Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C Ahrens-Nicklas, Cathleen Lutz

Characterization of Collaborative Cross mouse founder strain CAST/EiJ as a novel model for lethal COVID-19

合作杂交小鼠创始株 CAST/EiJ 作为致死性 COVID-19 新模型的表征

Candice N Baker, Debra Duso, Nagarama Kothapalli, Tricia Hart, Sean Casey, Tres Cookenham, Larry Kummer, Janine Hvizdos, Kathleen Lanzer, Purva Vats, Priya Shanbhag, Isaac Bell, Mike Tighe, Kelsey Travis, Frank Szaba, Olivia Bedard, Natalie Oberding, Jerrold M Ward, Mark D Adams, Cathleen Lutz, Shel

AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia

AAV8 基因疗法可逆转弗里德赖希共济失调小鼠模型的心脏病理并防止其早期死亡

Joshua C Chang, Molly R Ryan, Marie C Stark, Su Liu, Pravinkumar Purushothaman, Fria Bolan, Caitlin A Johnson, Mark Champe, Hui Meng, Michael W Lawlor, Sarah Halawani, Lucie V Ngaba, David R Lynch, Crystal Davis, Elena Gonzalo-Gil, Cathleen Lutz, Fabrizia Urbinati, Bala Medicherla, Carlos Fonck

Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies

STMN2隐蔽剪接多聚腺苷酸化的机制及其对TDP-43蛋白病的纠正

Michael W Baughn,Ze'ev Melamed,Jone López-Erauskin,Melinda S Beccari,Karen Ling,Aamir Zuberi,Maximilliano Presa,Elena Gonzalo-Gil,Roy Maimon,Sonia Vazquez-Sanchez,Som Chaturvedi,Mariana Bravo-Hernández,Vanessa Taupin,Stephen Moore,Jonathan W Artates,Eitan Acks,I Sandra Ndayambaje,Ana R Agra de Almeida Quadros,Paayman Jafar-Nejad,Frank Rigo,C Frank Bennett,Cathleen Lutz,Clotilde Lagier-Tourenne,Don W Cleveland

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency

具有次等位基因 SUMF1 变体的新型小鼠模型可模拟多种硫酸酯酶缺乏症的减弱形式

Nicolina Cristina Sorrentino, Maximiliano Presa, Sergio Attanasio, Vincenzo Cacace, Martina Sofia, Aamir Zuberi, Jennifer Ryan, Somdatta Ray, Igor Petkovic, Karthikeyan Radhakrishnan, Lars Schlotawa, Andrea Ballabio, Cathleen Lutz, Nicola Brunetti-Pierri