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

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

尼曼匹克病 C1 型中的铁稳态缺陷和血液学异常

Oscar C W Chen #, Stephan Siebel #, Alexandria Colaco #, Elena-Raluca Nicoli #, Nick Platt #, Dawn Shepherd, Stephanie Newman, Andrew E Armitage, Nicole Y Farhat, George Seligmann, Claire Smith, David A Smith, Alaa Abdul-Sada, Mylvaganam Jeyakumar, Hal Drakesmith, Forbes D Porter, Frances M Platt

Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease

尼曼匹克病的机制趋同和共同的治疗目标

Alexandria Colaco, Ecem Kaya, Elias Adriaenssens, Lianne C Davis, Stefania Zampieri, María E Fernández-Suárez, Chong Y Tan, Patrick B Deegan, Forbes D Porter, Antony Galione, Bruno Bembi, Andrea Dardis, Frances M Platt

Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C

无偏酵母筛选鉴定出受 C 型尼曼匹克病影响的细胞通路

Alexandria Colaco, María E Fernández-Suárez, Dawn Shepherd, Lihi Gal, Chen Bibi, Silvia Chuartzman, Alan Diot, Karl Morten, Emily Eden, Forbes D Porter, Joanna Poulton, Nick Platt, Maya Schuldiner, Frances M Platt

Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice

药物诱导的溶血双磷脂酸增加可降低尼曼匹克 C 型细胞和小鼠的胆固醇超载

Dimitri Moreau, Fabrizio Vacca, Stefania Vossio, Cameron Scott, Alexandria Colaco, Jonathan Paz Montoya, Charles Ferguson, Markus Damme, Marc Moniatte, Robert G Parton, Frances M Platt, Jean Gruenberg

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

AAV9 脑室内基因治疗可改善尼曼匹克 C1 型疾病小鼠模型的寿命、运动功能和病理

Michael P Hughes, Dave A Smith, Lauren Morris, Claire Fletcher, Alexandria Colaco, Mylene Huebecker, Julie Tordo, Nuria Palomar, Giulia Massaro, Els Henckaerts, Simon N Waddington, Frances M Platt, Ahad A Rahim

FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts

FTY720/芬戈莫德增加 NPC1 和 NPC2 表达并减少尼曼-匹克 C 型突变成纤维细胞中的胆固醇和鞘脂积累

Jason Newton, Nitai C Hait, Michael Maceyka, Alexandria Colaco, Melissa Maczis, Christopher A Wassif, Antony Cougnoux, Forbes D Porter, Sheldon Milstien, Nicholas Platt, Frances M Platt, Sarah Spiegel

A comparative study on fluorescent cholesterol analogs as versatile cellular reporters

荧光胆固醇类似物作为多功能细胞报告基因的比较研究

Erdinc Sezgin, Fatma Betul Can, Falk Schneider, Mathias P Clausen, Silvia Galiani, Tess A Stanly, Dominic Waithe, Alexandria Colaco, Alf Honigmann, Daniel Wüstner, Frances Platt, Christian Eggeling