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

Discovery of a Novel Chemo-Type for TAAR1 Agonism via Molecular Modeling

通过分子建模发现一种新型TAAR1激动剂化学类型

Grossi, Giancarlo; Scarano, Naomi; Musumeci, Francesca; Tonelli, Michele; Kanov, Evgeny; Carbone, Anna; Fossa, Paola; Gainetdinov, Raul R; Cichero, Elena; Schenone, Silvia

Parkinson's VPS35[D620N] mutation induces LRRK2-mediated lysosomal association of RILPL1 and TMEM55B

帕金森病 VPS35[D620N] 突变诱导 LRRK2 介导的 RILPL1 和 TMEM55B 溶酶体结合

Prosenjit Pal, Matthew Taylor, Pui Yiu Lam, Francesca Tonelli, Chloe A Hecht, Pawel Lis, Raja S Nirujogi, Toan K Phung, Wondwossen M Yeshaw, Ebsy Jaimon, Rotimi Fasimoye, Emily A Dickie, Melanie Wightman, Thomas Macartney, Suzanne R Pfeffer, Dario R Alessi

Genome-wide screen reveals Rab12 GTPase as a critical activator of Parkinson's disease-linked LRRK2 kinase

全基因组筛选揭示 Rab12 GTPase 是帕金森病相关 LRRK2 激酶的关键激活剂

Herschel S Dhekne #, Francesca Tonelli #, Wondwossen M Yeshaw #, Claire Y Chiang #, Charles Limouse, Ebsy Jaimon, Elena Purlyte, Dario R Alessi, Suzanne R Pfeffer

CaMKII inhibition due to TRIC-B loss-of-function dysregulates SMAD signaling in osteogenesis imperfecta

由于 TRIC-B 功能丧失而导致的 CaMKII 抑制导致成骨不全症中的 SMAD 信号失调

Roberta Besio, Barbara M Contento, Nadia Garibaldi, Marta Filibian, Stephan Sonntag, Doron Shmerling, Francesca Tonelli, Marco Biggiogera, Marisa Brini, Andrea Salmaso, Milena Jovanovic, Joan C Marini, Antonio Rossi, Antonella Forlino

Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding

与帕金森病相关的 100 种 LRRK2 变异对激酶活性和微管结合的影响

Alexia F Kalogeropulou #, Elena Purlyte #, Francesca Tonelli #, Sven M Lange, Melanie Wightman, Alan R Prescott, Shalini Padmanabhan, Esther Sammler, Dario R Alessi

Structure, evolution and expression of zebrafish cartilage oligomeric matrix protein (COMP, TSP5). CRISPR-Cas mutants show a dominant phenotype in myosepta

斑马鱼软骨寡聚基质蛋白(COMP、TSP5)的结构、进化和表达。CRISPR-Cas 突变体在肌隔中表现出显性表型

Helena Fabiana Forte-Gomez, Roberta Gioia, Francesca Tonelli, Birgit Kobbe, Peter Koch, Wilhelm Bloch, Mats Paulsson, Frank Zaucke, Antonella Forlino, Raimund Wagener

Pathogenic LRRK2 control of primary cilia and Hedgehog signaling in neurons and astrocytes of mouse brain

致病性 LRRK2 控制小鼠脑神经元和星形胶质细胞中的初级纤毛和 Hedgehog 信号传导

Shahzad S Khan, Yuriko Sobu, Herschel S Dhekne, Francesca Tonelli, Kerryn Berndsen, Dario R Alessi, Suzanne R Pfeffer

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

患有脊椎骨骺端发育不良的人类核糖体病患者中出现新型 RPL13 变异和不同的临床表现

Alice Costantini, Jessica J Alm, Francesca Tonelli #, Helena Valta #, Céline Huber, Anh N Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlin

Pancreatic Neuroendocrine Neoplasms in Multiple Endocrine Neoplasia Type 1

1型多发性内分泌肿瘤中的胰腺神经内分泌肿瘤

Marini, Francesca; Giusti, Francesca; Tonelli, Francesco; Brandi, Maria Luisa

Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms

解读 LRRK 密码:LRRK1 和 LRRK2 磷酸化不同的 Rab 蛋白,并受多种机制调控

Asad U Malik, Athanasios Karapetsas, Raja S Nirujogi, Sebastian Mathea, Deep Chatterjee, Prosenjit Pal, Pawel Lis, Matthew Taylor, Elena Purlyte, Robert Gourlay, Mark Dorward, Simone Weidlich, Rachel Toth, Nicole K Polinski, Stefan Knapp, Francesca Tonelli, Dario R Alessi