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

Brillouin Microscopy of Breast tumor Spheroids On-a-Chip: Mechanical and Transcriptional Responses to Microfluidic-Induced Rapid Deformations

布里渊显微镜观察芯片上的乳腺肿瘤球体:微流控诱导快速形变引起的机械和转录反应

Makkieh, Mona; Passeri, Alessandra Anna; Lazzari, Davide; Marchesi, Stefano; Disanza, Andrea; Salem, Rafal Khaled Ahmad; Bonacci, Francesco; Mazzella, Camillo; Martini, Emanuele; Tonani, Mattia; Donati, Leonardo; Bellini, Edoardo; Abdo, Hind; Pineau, Judith; Magni, Serena; Orsenigo, Fabrizio; Piel, Matthieu; Fioretto, Daniele; Martino, Sabata; Mattarelli, Maurizio; Scita, Giorgio; Green, Brenda J; Caponi, Silvia

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足性脑白质营养不良伴癫痫性脑病。

De Pace, Raffaella; Dominguez Gonzalez, Carlos A; Williamson, Chad D; Helman, Guy; Sanderson, Leslie E; Disanza, Brianna; Hsiao-Sánchez, Nicole; Pizzino, Amy; Muirhead, Kayla; Bonkowsky, Joshua L; Taft, Ryan J; Sannaa, Nouriya A; Dias, Patricia; Quintas, Ana Sofia; Mutlu, Mehmet Burak; Bas, Hasan; Oztürk, Hasan; Mojarrad, Majid; Alerasool, Masoome; Sheikhani, Shahriar; Jabbar, Hayder Kadhim; Issa, Awatif Hameed; Houlden, Henry; Zonic, Emir; Barakat, Tahsin Stefan; Tripolski, Kornelia; Romito, Antonio; Teferedegn, Eden; Vossough, Arastoo; Whitehead, Matthew T; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Simons, Cas; Wolvetang, Ernst; van Ham, Tjakko J; Bertoli-Avella, Aida M; Maroofian, Reza; Bonifacino, Juan S; Vanderver, Adeline

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

BCAT1基因的双等位基因变异会损害线粒体功能,并与一种候选神经代谢疾病相关。

Brianna L DiSanza,Giulia S Porcari,Livia Sertori Finoti,Leonardo Ramos-Rodriguez,Devin M Burris,Justin A McDonough,Gang Ning,Grace Fagan,Guy T Helman,Erin Weiss,Ryan J Taft,Amy Pizzino,Matthew T Whitehead,Amy Waldman,Cas Simons,Xilma Ortiz-Gonzalez,William C Skarnes,Adeline Vanderver,Elizabeth J Bhoj,Rebecca C Ahrens-Nicklas

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足性脑白质营养不良伴癫痫性脑病。

De Pace, Raffaella; Gonzalez, Carlos Dominguez; Williamson, Chad D; Helman, Guy; Sanderson, Leslie E; Disanza, Brianna; Hsiao-Sánchez, Nicole; Pizzino, Amy; Muirhead, Kayla; Bonkowsky, Joshua L; Taft, Ryan J; Sannaa, Nouriya A; Dias, Patricia; Quintas, Ana Sofia; Mutlu, Mehmet Burak; Bas, Hasan; Oztürk, Hasan; Mojarrad, Majid; Alerasool, Masoome; Sheikhani, Shahriar; Jabbar, Hayder Kadhim; Issa, Awatif Hameed; Houlden, Henry; Zonic, Emir; Barakat, Tahsin Stefan; Tripolski, Kornelia; Romito, Antonio; Teferedegn, Eden; Vossough, Arastoo; Whitehead, Matthew T; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Simons, Cas; Wolvetang, Ernst; van Ham, Tjakko J; Bertoli-Avella, Aida M; Maroofian, Reza; Bonifacino, Juan S; Vanderver, Adeline

Biophysical and Molecular mechanisms that control active wetting and tissue fluidification in epithelial tissues.

控制上皮组织中主动润湿和组织液化的生物物理和分子机制

Marchesi Stefano, Guidolin Chiara, Massey Andrew E, Lemahieu Gregoire, Lavagnino Zeno, Beznoussenko Galina V, Mironov Alexandre A, Green Brenda, Allievi Elisa, Martini Emanuele, Magni Serena, Ghisleni Andrea, Lomazzi Caterina, Benvenuto Andrea Francesco, Schertel Andreas, Parazzoli Dario, Maiuri Paolo, Sigismund Sara, Gauthier Nils, Cavalcanti-Adam Ada E, Cartagena-Rivera Alexander X, Giavazzi Fabio, Scita Giorgio, Disanza Andrea

KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders

KOLF2.1J iPSCs携带与神经发育障碍相关的拷贝数变异(CNV)。

Gracia-Diaz, Carolina; Perdomo, Jonathan E; Khan, Munir E; Roule, Thomas; Disanza, Brianna L; Cajka, Gregory G; Lei, Sunyimeng; Gagne, Alyssa L; Maguire, Jean Ann; Shalem, Ophir; Bhoj, Elizabeth J; Ahrens-Nicklas, Rebecca C; French, Deborah L; Goldberg, Ethan M; Wang, Kai; Glessner, Joseph T; Akizu, Naiara

TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression

ALS 中的 TDP-43 蛋白病是由 ASRGL1 的缺失引发的,并且与 HML-2 表达有关

Marta Garcia-Montojo, Saeed Fathi, Cyrus Rastegar, Elena Rita Simula, Tara Doucet-O'Hare, Y H Hank Cheng, Rachel P M Abrams, Nicholas Pasternack, Nasir Malik, Muzna Bachani, Brianna Disanza, Dragan Maric, Myoung-Hwa Lee, Herui Wang, Ulisses Santamaria, Wenxue Li, Kevon Sampson, Juan Ramiro Lorenzo, 

Cell stretching activates an ATM mechano-transduction pathway that remodels cytoskeleton and chromatin

细胞拉伸激活 ATM 机械转导通路,重塑细胞骨架和染色质

Giulia Bastianello, Giancarlo Porcella, Galina V Beznoussenko, Gururaj Kidiyoor, Flora Ascione, Qingsen Li, Angela Cattaneo, Vittoria Matafora, Andrea Disanza, Micaela Quarto, Alexander A Mironov, Amanda Oldani, Sara Barozzi, Angela Bachi, Vincenzo Costanzo, Giorgio Scita, Marco Foiani

A mechanosensing mechanism controls plasma membrane shape homeostasis at the nanoscale

机械传感机制在纳米尺度上控制质膜形状稳态

Xarxa Quiroga, Nikhil Walani, Andrea Disanza, Albert Chavero, Alexandra Mittens, Francesc Tebar, Xavier Trepat, Robert G Parton, María Isabel Geli, Giorgio Scita, Marino Arroyo, Anabel-Lise Le Roux, Pere Roca-Cusachs

Ena/VASP clustering at microspike tips involves lamellipodin but not I-BAR proteins, and absolutely requires unconventional myosin-X

微刺尖端的 Ena/VASP 聚集涉及 lamellipodin,但不涉及 I-BAR 蛋白,并且绝对需要非常规肌球蛋白-X

Thomas Pokrant, Jens Ingo Hein, Sarah Körber, Andrea Disanza, Andreas Pich, Giorgio Scita, Klemens Rottner, Jan Faix