Results 81 to 90 of about 137,270 (354)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Genomic Amplification of TBC1D31 Promotes Hepatocellular Carcinoma Through Reducing the Rab22A‐Mediated Endolysosomal Trafficking and Degradation of EGFR

Advanced Science
Hepatocellular carcinomas (HCCs) are characterized by a vast spectrum of somatic copy number alterations (CNAs); however, their functional relevance is largely unknown.
Pengbo Cao, Hongxia Chen, Ying Zhang, Qi Zhang, Mengting Shi, Huihui Han, Xiaowen Wang, Liang Jin, Bingqian Guo, Rongjiao Hao, Xi Zhao, Yuanfeng Li, Chengming Gao, Xinyi Liu, Yahui Wang, Aiqing Yang, Chenning Yang, Anfeng Si, Hua Li, Qingfeng Song, Fuchu He, Gangqiao Zhou   +21 more
doaj   +1 more source

Loss of GTPase activating protein neurofibromin stimulates paracrine cell communication via macropinocytosis

Redox Biology, 2019
Neurofibromin, the protein product of the neurofibromatosis type 1 (NF1) tumor suppressor gene, is a negative regulator of Ras signaling. Patients with mutations in NF1 have a strong predisposition for cardiovascular disease, which contributes to their ...
Pushpankur Ghoshal, Bhupesh Singla, Huiping Lin, Mary Cherian-Shaw, Rebekah Tritz, Caleb A. Padgett, Farlyn Hudson, Hanfang Zhang, Brian K. Stansfield, Gábor Csányi   +9 more
doaj   +1 more source

Harnessing Non‐Covalent Protein–Protein Interaction Domains for Production of Biocatalytic Materials Systems

Advanced Functional Materials, EarlyView.
Non‐covalent protein–protein interactions mediated by SH3, PDZ, or GBD domains enable the self‐assembly of stable and biocatalytically active hydrogel materials. These soft materials can be processed into monodisperse foams that, once dried, exhibit enhanced mechanical stability and activity and are easily integrated into microstructured flow ...
Julian S. Hertel, Maria Alessandra Martini, Marius Stoeckle, Annika J. Weber, Kersten S. Rabe, Christof M. Niemeyer   +5 more
wiley   +1 more source

Multiscale Hybrid Surface Topographies Orchestrate Immune Regulation, Antibacterial Defense, and Tissue Regeneration

Advanced Healthcare Materials, EarlyView.
Hybrid wrinkled topographies coordinate immune, tissue, and bacterial interactions. The surfaces promote osteointegration, tune macrophage polarization, and inhibit biofilm formation, highlighting a multifunctional strategy for next‐generation implant design.
Mohammad Asadi Tokmedash, Jacob Robins, J. Scott VanEpps, Minji Kim, Jouha Min   +4 more
wiley   +1 more source

G3BP1 modulates SPOP to promote prostate tumorigenesis

Molecular & Cellular Oncology, 2022
Speckle-type POZ protein (SPOP), a Cullin 3-based ubiquitin ligase (CUL3SPOP), acts as a prostate-specific tumor suppressor. Loss-of-function mutations in SPOP occur in 10% of primary prostate cancer with a high Gleason grade and poor prognosis. However,
Chandrani Mukhopadhyay, Pengbo Zhou
doaj   +1 more source

ARHGAP21 (Rho GTPase activating protein 21) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018
ARHGAP21 is a Rho GTPase-activating protein (RhoGAP). Like other members of the RhoGAP family, ARHGAP21 enhances the intrinsic GTPase activity of small Rho GTPases, leading to their inactivation. ARHGAP21 participates in cellular proliferation, adhesion, migration and vesicle traffic.
Ferreira Pissarra, Mariana, Olalla Saad, Sara Teresinha, Lazarini, Mariana   +2 more
openaire   +2 more sources

Drug hypersensitivity caused by alteration of the MHC-presented self-peptide repertoire [PDF]

, 2012
Idiosyncratic adverse drug reactions are unpredictable, dose independent and potentially life threatening; this makes them a major factor contributing to the cost and uncertainty of drug development. Clinical data suggest that many such reactions involve
A. Lucas, A. M. English, A. Sette, A. Wriston, B. J. Grant, B. Peters, C. A. F. de Oliveira, C. Oseroff, Cahalan, Chessman, Chung, D. A. Ostrov, D. F. Hunt, Day, E. Phillips, Faletto, Friesner, H. M. Grey, H. Mei, Harndahl, J. Jakoncic, J. Shabanowitz, J. Sidney, Ko, L. Shi, L. Yang, Lavergne, M. Harndahl, Mallal, Martin, Melroy, Phillips, Pichler, Rudolph, S. Buus, S. Lu, S. Mallal, S. Southwood, Shastri, Shimizu, Sidney, Sidney, Tenzer, Udeshi, Y. A. Pompeu, Yang, Yang, Yewdell   +47 more
core   +4 more sources

Targeting the ARRDC3–DRP1 Axis via hUMSC‐Derived Exosomal CRYAB for Neuroprotection in Cerebral Ischemia/Reperfusion Injury

Advanced Healthcare Materials, EarlyView.
Intranasally administered hUMSC‐derived exosomes modulate the CRYAB–ARRDC3–Drp1 axis, alleviating mitochondrial dysfunction and ferroptosis, enhancing neuronal survival, reducing oxidative stress, and promoting functional recovery in ischemia‐reperfusion injury, offering a promising therapeutic strategy for ischemic stroke.
Rong ji, Zengyu Zhang, Zhuohang Liu, Kaicheng Yang, Xueyu Mao, Min Chu, Yong Wang, Jing Zhao   +7 more
wiley   +1 more source

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