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

Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C > A for Exon 27 Splicing and Axonal Transport of SFPQ.

新型 ALS 相关 KIF5A 变体 c.2993-6C > A 对 SFPQ 外显子 27 剪接和轴突运输的影响。

Rouleau Guy A, Yu Ziqi, Ross Jay P, Rochefort Daniel, Li Boting, Bornais Kate, Chum Marvin, Farhan Sali M K, Dion Patrick A

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

靶向血浆蛋白质组学揭示了与KIF5A相关SPG10和ALS谱系疾病相关的蛋白质

Dulski, Jarosław; Boddapati, Arun K; Risi, Barbara; Iruzubieta, Pablo; Orlacchio, Antonio; Fernández-Torrón, Roberto; Castillo-Triviño, Tamara; López de Munain, Adolfo; Vucic, Steve; Padovani, Alessandro; Kaat, Laura Donker; Barakat, Tahsin Stefan; Petrucelli, Leonard; Prudencio, Mercedes; Landers, John E; Weishaupt, Jochen H; Prokop, Andreas; Filosto, Massimiliano; Wszolek, Zbigniew K; Pant, Devesh C

Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patient

对新型KIF5A p.R17Q VUS的功能验证揭示了SPG10患者iPSC-运动神经元中轴突运输缺陷

Santangelo, Serena; Casiraghi, Valeria; Fallini, Claudia; Invernizzi, Sabrina; Peverelli, Silvia; Bertocchi, Martina; Feole, Monica; Cozzi, Marta; Magri, Stefania; Poletti, Angelo; Bossolasco, Patrizia; Taroni, Franco; Silani, Vincenzo; Ratti, Antonia

KIF5A and ALS: a clinical and genetic description of a case series and review of literature

KIF5A与ALS:病例系列的临床和遗传描述及文献综述

D'Amico, Anna; Cucunato, Roberta; Schirò, Giuseppe; Salemi, Giuseppe; Ragonese, Paolo; La Bella, Vincenzo; Aridon, Paolo; D'Amelio, Marco

One gene, many phenotypes: the role of KIF5A in neurodegenerative and neurodevelopmental diseases

一个基因,多种表型:KIF5A在神经退行性疾病和神经发育疾病中的作用

Cozzi, Marta; Tedesco, Barbara; Ferrari, Veronica; Chierichetti, Marta; Pramaggiore, Paola; Cornaggia, Laura; Magdalena, Rocio; Brodnanova, Maria; Mohamed, Ali; Milioto, Carmelo; Piccolella, Margherita; Galbiati, Mariarita; Rusmini, Paola; Crippa, Valeria; Gellera, Cinzia; Magri, Stefania; Taroni, Franco; Cristofani, Riccardo; Poletti, Angelo

MiR-140-3p regulates axonal motor protein KIF5A and contributes to axonal transport degeneration in SMA

miR-140-3p 调控轴突运动蛋白 KIF5A,并导致 SMA 中的轴突运输退化。

Baklou, Markella; Valsecchi, Valeria; Laudati, Giusy; Kolici, Xhesika; Brancaccio, Paola; De Iesu, Nunzia; Anzilotti, Serenella; Cieri, Federica; Pignataro, Giuseppe

A novel antidepressant mechanism of baicalin: enhancing KIF5A-mediated axoplasmic transport and vesicular trafficking in glutamatergic neurons

黄芩苷的新型抗抑郁机制:增强谷氨酸能神经元中KIF5A介导的轴浆运输和囊泡运输

Lu, Shuaifei; Shen, Jiduo; Jin, Xiaohui; Zhang, Changjing; Wang, Baoying; Liu, Xianghua; Bai, Ming; Xu, Erping; Yan, Xiangli; Li, Yucheng

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

KIF5A p.Pro986Leu 风险变异与肌萎缩侧索硬化症的加速进展

Manini, Arianna; Vasta, Rosario; Brusati, Alberto; Scheveger, Francesco; Peverelli, Silvia; Maranzano, Alessio; Doretti, Alberto; Gentile, Francesco; Colombo, Eleonora; Brunetti, Maura; Moglia, Cristina; Canosa, Antonio; Manera, Umberto; Grassano, Maurizio; Gentilini, Davide; Messina, Stefano; Verde, Federico; Morelli, Claudia; Landers, John E; Traynor, Bryan J; Chiò, Adriano; Silani, Vincenzo; Calvo, Andrea; Ratti, Antonia; Ticozzi, Nicola

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort

KIF5A突变的新变异及基因型-表型相关性:一项大型意大利队列研究的贡献

Ferese, Rosangela; Suppa, Antonio; Campopiano, Rosa; Scala, Simona; Sammarone, Federica; Di Pilla, Luana; Di Pardo, Alba; Chiaravalloti, Maria Antonietta; Griguoli, Anna Maria; Cannella, Milena; D'Alessio, Carmelo; Storto, Marianna; Fanelli, Mirco; Zampogna, Alessandro; Patera, Martina; Inghilleri, Maurizio; Ceccanti, Marco; Cambieri, Chiara; Buttari, Fabio; Peconi, Cristina; Giardina, Emiliano; Zampatti, Stefania; Centonze, Diego; Gambardella, Stefano

A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant

一名患有遗传性痉挛性截瘫的日本患者,携带罕见的KIF5A无义突变

Miura, Shiroh; Suenaga, Seria; Goto, Hana; Wang, Zhaonan; Makino, Akane; Fan, Luoming; Senzaki, Kensuke; Ochi, Masayuki; Ohyagi, Yasumasa; Shibata, Hiroki