Results 31 to 40 of about 232,963 (342)

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

Structure and function of bacterial dynamin-like proteins [PDF]

, 2012
Membrane dynamics are essential for numerous cellular processes in eukaryotic and prokaryotic cells. In eukaryotic cells, membrane fusion and fission are often catalyzed by large GTPases of the dynamin protein family. These proteins couple GTP hydrolysis
Bramkamp, Marc
core   +1 more source

ARF: the most misunderstood GTPase I ever knew - why study ARF GAPs

Frontiers in Molecular Biosciences
ADP-ribosylation factors (ARFs) are GTP-binding proteins that were discovered in the early 1980s, shortly after heterotrimeric GTP-binding proteins (G proteins) and nearly simultaneously with RAS.
Rachel E. Turn, Joel Bryan Dacks, Eric M. Rosenberg, Olivier Soubias, John K. Northup, Paul A. Randazzo   +5 more
doaj   +1 more source

Mutations in human dynamin block an intermediate stage in coated vesicle formation [PDF]

, 1993
The role of human dynamin in receptor-mediated endocytosis was investigated by transient expression of GTP-binding domain mutants in mammalian cells. Using assays which detect intermediates in coated vesicle formation, the dynamin mutants were found to ...
Damke, Hanna, Meyerowitz, Elliot M., Redelmeier, Thomas E., Schmid, Sandra L., Tisdale, Ellen J., van der Bliek, Alexander M.   +5 more
core   +3 more sources

IQGAP Family Members in Yeast, Dictyostelium, and Mammalian Cells

International Journal of Cell Biology, 2012
IQGAPs are a family of scaffolding proteins with multiple domains, named for the IQ motifs and GTPase activating protein (GAP) related domains. Despite their GAP homology, IQGAP proteins act as effectors for GTP-bound GTPases of the Ras superfamily and ...
Katie B. Shannon
doaj   +1 more source

The GTP- and Phospholipid-Binding Protein TTD14 Regulates Trafficking of the TRPL Ion Channel in Drosophila Photoreceptor Cells. [PDF]

PLoS Genetics, 2015
Recycling of signaling proteins is a common phenomenon in diverse signaling pathways. In photoreceptors of Drosophila, light absorption by rhodopsin triggers a phospholipase Cβ-mediated opening of the ion channels transient receptor potential (TRP) and ...
Alexander C Cerny, André Altendorfer, Krystina Schopf, Karla Baltner, Nathalie Maag, Elisabeth Sehn, Uwe Wolfrum, Armin Huber   +7 more
doaj   +1 more source

Concerted Complex Assembly and GTPase Activation in the Chloroplast Signal Recognition Particle [PDF]

, 2011
The universally conserved signal recognition particle (SRP) and SRP receptor (SR) mediate the cotranslational targeting of proteins to cellular membranes.
Chandrasekar, Sowmya, Neher, Saskia, Nguyen, Thang X., Shan, Shu-ou, Walter, Peter   +4 more
core   +3 more sources

Reciprocal regulation of PKA and rac signaling [PDF]

, 2013
Activated G protein-coupled receptors (GPCRs) and receptor tyrosine kinases relay extracellular signals through spatial and temporal controlled kinase and GTPase entities.
A. Riml, Baillie, Bhola, Birukova, Cook, Cuevas, Daaka, Delcourt, Dewire, Dorsam, Dumaz, E. Stefan, Eblen, G. S. Baillie, Gerits, Gloerich, Hafner, Hoffmann, Howe, Jaffe, K. R. Liedl, Kinderman, King, Kraynov, Kumar, Ligr, Malbon, Manser, Molli, Nika, Pierce, R. G. Huber, Sahai, Sch  fer, Scott, Smith, Stefan, Stork, T. Valovka, Taylor, Thaker, V. A. Bachmann, Wang, Wennerberg, Wong, Zenke, Zhang, Zhao   +47 more
core   +1 more source

Molecules and mechanisms that regulate multipolar migration in the intermediate zone

Frontiers in Cellular Neuroscience, 2014
Most neurons migrate with an elongated, bipolar morphology, extending a long leading process that explores the environment. However, when immature projection neurons enter the intermediate zone of the neocortex they become multipolar.
Jonathan A Cooper
doaj   +1 more source

Divergent Mechanisms Activating RAS and Small GTPases Through Post-translational Modification

Frontiers in Molecular Biosciences, 2021
RAS is a founding member of the RAS superfamily of GTPases. These small 21 kDa proteins function as molecular switches to initialize signaling cascades involved in various cellular processes, including gene expression, cell growth, and differentiation ...
Natsuki Osaka, Yoshihisa Hirota, Yoshihisa Hirota, Doshun Ito, Doshun Ito, Yoshiki Ikeda, Ryo Kamata, Yuki Fujii, Yuki Fujii, Venkat R. Chirasani, Sharon L. Campbell, Koh Takeuchi, Toshiya Senda, Toshiya Senda, Toshiya Senda, Atsuo T. Sasaki, Atsuo T. Sasaki, Atsuo T. Sasaki, Atsuo T. Sasaki   +18 more
doaj   +1 more source