Results 171 to 180 of about 345,856 (295)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Disruption of Synaptic Vesicle Trafficking in Alzheimer's and Parkinson's Disease: Mechanisms and Therapeutic Implication. [PDF]

Int J Mol Sci
Zhu Y, Zhao L, Li Y, Tian M, Liao Y, Huang J, Guo P, Xie Y.   +7 more
europepmc   +1 more source

Promoter Hypermethylation‐Induced Silencing of FXYD1 Drives Breast Cancer Metastasis via DDX5‐Mediated Wnt/β‐Catenin Pathway Activation

Advanced Science, EarlyView.
This study identifies FXYD1 as an epigenetically silenced tumor suppressor in breast cancer. DNA methylation turns off the gene FXYD1 in breast cancer, and low levels predict worse outcomes. Restoring FXYD1 limits breast cancer cells proliferation and metastasis. In the nucleus, FXYD1 recruits the E3 ligase MAEA to K63‐ubiquitinate DDX5 for proteasomal
Ping Wen, Fanli Qu, Long Wang, Qing Shao, Sisi Li, Yang Qin, Dongping Jiang, Senmiao Zhang, Jiangdong Sui, Guanwen Wang, Ningning Zhang, Xiaohua Zeng   +11 more
wiley   +1 more source

Membrane-associated periodic skeleton regulates major forms of endocytosis in neurons through a signaling-driven positive feedback loop. [PDF]

Sci Adv
Fei J, Zheng Y, LaLonde C, Tao Y, Zhou R.   +4 more
europepmc   +1 more source

A Mitochondria‐Specific Nanomedicine for Synergistic Chemo‐Photothermal Therapy and Immunogenic Activation Against Breast Cancer

Advanced Science, EarlyView.
Peptide dendrimer–based nanoplatform with mitochondria‐targeting capability was developed for synergistic chemo‐photothermal therapy. The system promotes efficient transcytosis, induces mitochondrial dysfunction, triggers immunogenic cell death (ICD), and enhance antitumor immunity by promoting dendritic cell maturation and T‐cell activation, resulting
Min Li, Jiangqi Feng, Junyang Zhuang, Qingguo Zhong, Yanda Li, Yanzhuo Lv, Shaoteng Huang, Xiangyu Huang, Mingbo Zhang, Xiaofeng Cai, Yuxin Wang, Wenping Chen, Zhenyu Duan, Zhou Chen, Kui Luo, Ning Li   +15 more
wiley   +1 more source

Clathrin-independent endocytosis and retrograde transport in cancer cells tune immune synapse organization and CD8 T cell response. [PDF]

Elife
Xu S, Buridant A, Hirsch T, Duhamel C, Ledoux B, Shafaq-Zadah M, Dransart E, Thines L, Johannes L, Van der Bruggen P, Morsomme P, Renard HF.   +11 more
europepmc   +1 more source

Studying Macromolecular Composition in Cell–Cell Interfaces Using 3D Membrane Reconstitution Systems

Advanced Science, EarlyView.
A comprehensive understanding of the interactions between proteins, lipids and glycocalyx components at the immune synapse is still lacking. Here, an artificial and a semi‐artificial model contact system were established to reconstitute the cell‐cell contact in 3D. The model systems enable the examination of macromolecule enrichment or depletion at the
Franziska Ragaller, Amelie Maribel Schneider, Ellen Sjule, Renhua Sun, Xiao Han, Luca Andronico, Edward Jenkins, Michael Dustin, Adnane Achour, Erdinc Sezgin   +9 more
wiley   +1 more source

Dynamic regulation of TASK-1 channels under cellular stress. [PDF]

J Physiol Sci
Yu Y, Curry J, Tankersley S, Hu K.
europepmc   +1 more source

CRISPR/Cas9‐Based Vanadium MXene‐Free Radical Spatiotemporally Controlled Nanoreactor for Photothermal‐Induced Multi‐Effect Synergistic Antitumor Therapy

Advanced Science, EarlyView.
In this study, a MXene‐based V4C3 nanoplatform, VARH, was constructed, which achieved a photothermal conversion efficiency of 44.21% in the NIR‐II window. This platform integrated photothermal therapy, chemodynamic therapy, and thermodynamic therapy with CRISPR/Cas9‐mediated heat shock protein 90 knock‐out technology.
Zi‐Jian Huang, Feng‐Ming Li, Yi‐Fan Tu, Ke‐Ke Feng, Cheng‐Lei Li, Shi‐Cheng Tian, Yong‐Shan Hu, Jing‐Wei Shao, Zhen‐Hua Liu   +8 more
wiley   +1 more source

Nanomedicine Meets Immunotherapy: Advancing Adoptive Cell Therapy with Nanoparticles in the Treatment of Cancer with Sustainability Perspectives

Advanced Science, EarlyView.
This review surveys nanoparticle‐based strategies to enhance adoptive cell therapy, particularly CAR‐T cell approaches, in solid tumor treatment. It describes how nanoparticles can improve tumor immunogenicity and T‐cell infiltration while reducing toxicity, and how they enable in vivo CAR‐T cell generation.
Erica Frostegård, Tatiana Bobrova, Amalie Leinebø, Thibault Leray, Shayamita Ghosh, Lorena García‐Hevia, Chiara Puccinelli, Lorenzo Riccio, Jacopo Sorani, Davide Bonifazi, Julien Caumartin, Emmanuel Donnadieu, Florence Gazeau, Roland Hischier, Else Marit Inderberg, Mónica L. Fanarraga, Maria Loustau, Bernd Nowack, Sébastien Wälchli, Cécilia Ménard‐Moyon   +19 more
wiley   +1 more source