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

Expanding the AFG3L2 Spectrum: A Link to Axonal Neuropathy

AFG3L2谱系的扩展:与轴突神经病变的联系

Rocco, Alessandra; Laurini, Christian; Falzone, Yuri Matteo; Calzavara, Silvia; Del Carro, Ubaldo; Previtali, Stefano Carlo; Maltecca, Francesca

Clinical-grade intranasal NGF fuels neurological and metabolic functions of Mecp2-deficient mice.

临床级鼻内 NGF 可促进 Mecp2 缺陷小鼠的神经和代谢功能

Pozzer Diego, Indrigo Marzia, Breccia Martina, Florio Elena, Franchino Camilla Aurora, De Rocco Giuseppina, Maltecca Francesca, Fadda Antonio, Rossato Marzia, Aramini Andrea, Allegretti Marcello, Frasca Angelisa, De Filippis Lidia, Landsberger Nicoletta

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

常染色体隐性小脑共济失调:将基因转化为疗法

Fogel, Brent L; Klopstock, Thomas; Lynch, David R; Maltecca, Francesca; Verma, Mayank; Minassian, Berge A; Platt, Frances M; Gonçalves, Débora Farina; Puccio, Hélène; Roos, Andreas; Synofzik, Matthis

U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene

由TACO1基因新突变引起的U型纤维脑白质病

Sferruzza, Giacomo; Del Bondio, Andrea; Citterio, Andrea; Vezzulli, Paolo; Guerrieri, Simone; Radaelli, Marta; Martinelli Boneschi, Filippo; Filippi, Massimo; Maltecca, Francesca; Bassi, Maria Teresa; Scarlato, Marina

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

一种位于 AAA 结构域附近的新型 AFG3L2 突变导致 OMA1 和 OPA1 加工异常,该家族患有视神经萎缩。

Baderna, Valentina; Schultz, Joshua; Kearns, Lisa S; Fahey, Michael; Thompson, Bryony A; Ruddle, Jonathan B; Huq, Aamira; Maltecca, Francesca

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

AFG3L2蛋白水解结构域的致病性变异通过单倍体不足和蛋白稳态应激驱动的OMA1激活导致SCA28。

Tulli, Susanna; Del Bondio, Andrea; Baderna, Valentina; Mazza, Davide; Codazzi, Franca; Pierson, Tyler Mark; Ambrosi, Alessandro; Nolte, Dagmar; Goizet, Cyril; Toro, Camilo; Baets, Jonathan; Deconinck, Tine; DeJonghe, Peter; Mandich, Paola; Casari, Giorgio; Maltecca, Francesca

Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions

过氧化物酶3的上调在体外保护Afg3l2敲除皮层神经元免受氧化应激:神经退行性疾病条件下神经元细胞存活的范例

Bettegazzi, Barbara; Pelizzoni, Ilaria; Salerno Scarzella, Floramarida; Restelli, Lisa Michelle; Zacchetti, Daniele; Maltecca, Francesca; Casari, Giorgio; Grohovaz, Fabio; Codazzi, Franca

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

缺乏共济失调蛋白sacsin的细胞中,中间丝细胞骨架的组织结构发生改变,蛋白质稳态调节因子发生重新定位。

Duncan, Emma J; Larivière, Roxanne; Bradshaw, Teisha Y; Longo, Fabiana; Sgarioto, Nicolas; Hayes, Matthew J; Romano, Lisa E L; Nethisinghe, Suran; Giunti, Paola; Bruntraeger, Michaela B; Durham, Heather D; Brais, Bernard; Maltecca, Francesca; Gentil, Benoit J; Chapple, J Paul

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

AFG3L2 缺乏引起的呼吸功能障碍会导致线粒体钙摄取减少,这是由于细胞器网络断裂所致。

Maltecca, Francesca; De Stefani, Diego; Cassina, Laura; Consolato, Francesco; Wasilewski, Michal; Scorrano, Luca; Rizzuto, Rosario; Casari, Giorgio

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration

AFG3L2基因(导致28型脊髓小脑性共济失调的基因)的单倍体不足会引起线粒体介导的浦肯野细胞暗变性。

Maltecca, Francesca; Magnoni, Raffaella; Cerri, Federica; Cox, Gregory A; Quattrini, Angelo; Casari, Giorgio