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

Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia

在遗传性痉挛性截瘫的果蝇模型中,Fic 的缺失会导致进行性神经退行性变。

Amanda G Lobato ,Natalie Ortiz-Vega ,Tijana Canic ,Xianzun Tao ,Nika Bucan ,Kai Ruan ,Adriana P Rebelo ,Rebecca Schule ,Stephan Zuchner ,Sheyum Syed ,R Grace Zhai

Novel variant in CADM3 causes Charcot-Marie-Tooth disease

CADM3 中的新变异会导致夏科-马里-图斯病

Abdoulaye Yalcouyé, Adriana P Rebelo, Lassana Cissé, Lynette Rives, Salia Bamba, Joy Cogan, Kevin Esoh, Salimata Diarra, Kimberly M Ezell, Abdoulaye Taméga, Cheick O Guinto, Maike F Dohrn, Rizwan Hamid, Kenneth H Fischbeck, Stephan Zuchner, Guida Landouré

Translesion DNA synthesis-driven mutagenesis in very early embryogenesis of fast cleaving embryos

快速分裂胚胎的早期胚胎发生中跨损伤 DNA 合成驱动的诱变

Elena Lo Furno, Isabelle Busseau, Antoine Aze, Claudio Lorenzi, Cima Saghira, Matt C Danzi, Stephan Zuchner, Domenico Maiorano

A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle

与神经病相关的驱动蛋白 KIF1A 突变在 ATPase 循环过程中高度稳定了运动颈部相互作用

Manatsu Morikawa, Nivedita U Jerath, Tadayuki Ogawa, Momo Morikawa, Yosuke Tanaka, Michael E Shy, Stephan Zuchner, Nobutaka Hirokawa

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

肌病相关的 BAG3 突变通过阻碍 Hsp70 网络导致蛋白质聚集

Melanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, Jennifer N Rauch, Rocio Bengoechea, William W Motley, E F Elsiena Kuiper, Melania Minoia, Gabriel V Furtado, Maria A W H van Waarde, Shawn J Bird, Adriana Rebelo, Stephan Zuchner, Peter Pytel, Steven S Scherer, Federica F Morelli, Ser

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

SCO2 突变导致与细胞铜缺乏相关的早发性轴突性夏科-马里-图斯病

Adriana P Rebelo, Dimah Saade, Claudia V Pereira, Amjad Farooq, Tyler C Huff, Lisa Abreu, Carlos T Moraes, Diana Mnatsakanova, Kathy Mathews, Hua Yang, Eric A Schon, Stephan Zuchner, Michael E Shy

Insights into the genotype-phenotype correlation and molecular function of SLC25A46

深入了解 SLC25A46 的基因型-表型相关性和分子功能

Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, Elena Buglo, Ion J Campeanu, Adriana P Rebelo, Andrew J Kornberg, Dean G Phelan, Zornitza Stark, Stephan Zuchner

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

肌张力障碍蛋白的新突变为 HSAN-VI 的发病机制提供了线索

Fiore Manganelli, Silvia Parisi, Maria Nolano, Feifei Tao, Simona Paladino, Chiara Pisciotta, Stefano Tozza, Claudia Nesti, Adriana P Rebelo, Vincenzo Provitera, Filippo M Santorelli, Michael E Shy, Tommaso Russo, Stephan Zuchner, Lucio Santoro

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

痉挛性截瘫中的运动神经元变性 11 模仿肌萎缩侧索硬化症病变

Paola S Denora, Katrien Smets, Federica Zolfanelli, Chantal Ceuterick-de Groote, Carlo Casali, Tine Deconinck, Anne Sieben, Michael Gonzales, Stephan Zuchner, Frédéric Darios, Dirk Peeters, Alexis Brice, Alessandro Malandrini, Peter De Jonghe, Filippo M Santorelli, Giovanni Stevanin, Jean-Jacques Ma

A novel missense mutation of CMT2P alters transcription machinery

CMT2P 的新型错义突变改变了转录机制

Bo Hu, Sezgi Arpag, Stephan Zuchner, Jun Li