Results 141 to 150 of about 322,041 (407)

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

The beta subunit of the signal recognition particle receptor is a transmembrane GTPase that anchors the alpha subunit, a peripheral membrane GTPase, to the endoplasmic reticulum membrane. [PDF]

, 1995
The signal recognition particle receptor (SR) is required for the cotranslational targeting of both secretory and membrane proteins to the endoplasmic reticulum (ER) membrane.
Lauffer, L, Miller, JD, Tajima, S, Walter, P   +3 more
core  

Crystallization of YIoQ, a GTPase of unknown function essential for Bacillus subtilis viability [PDF]

, 2004
YLoQ is a putative ATP/GTP-binding protein of unknown function identified from the complete sequence of the Bacillus subtilis genome. A gene-knockout programme established that yloQ is one of a set of some 270 indispensable genes for the viability of ...
Blagova, E, Brannigan, J A, Cladiere, L, Levdikov, V M, Seror, S J, Wilkinson, A J   +5 more
core   +1 more source

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

Arthritis Care &Research, Accepted Article.
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla, Robert Lafyatis, Kevin F Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J Kass   +13 more
wiley   +1 more source

A Dynamin-3 Spliced Variant Modulates the Actin/Cortactin-Dependent Morphogenesis of Dendritic Spines [PDF]

, 2005
Immature dendrites extend many actin-rich filopodial structures that can be replaced by synapse-containing dendritic spines as the neuron matures. The large GTPase dynamin-3 (Dyn3) is a component of the postsynapse in hippocampal neurons but its function
Chen, Jing, Gray, Noah W., Kruchten, Anne E., McNiven, Mark A.   +3 more
core   +2 more sources

Regulation of exosome secretion by Rab35 and its GTPase-activating proteins TBC1D10A–C

Journal of Cell Biology, 2010
A screen in oligodendrocytes establishes a Rab family member and its GAPs as regulators of exosome secretion by controlling endocytic vesicle docking with the plasma membrane.
Chieh Hsu, Y. Morohashi, S. Yoshimura, Natalia Manrique-Hoyos, Sangyong Jung, M. Lauterbach, Mostafa Bakhti, M. Grønborg, W. Möbius, J. Rhee, F. Barr, M. Simons   +11 more
semanticscholar   +1 more source

A Spatially Resolved View on the Aging Substantia nigra: An Exploratory Proteomic Study

Advanced Biology, EarlyView.
Although aging is the most important risk factor for several neurodegenerative diseases, the molecular effects of physiological aging are still understudied. By applying spatially‐resolved proteomic analyses of the human substantia nigra pars compacta, alterations in vesicular trafficking and mitochondrial proteins are observed, as well as reduced ...
Britta Eggers, Maximilian Hausherr, Michel Lim, Karin Schork, Bilhan Karacora, Robin Grugel, Martin Eisenacher, Isabel Gil Aldea, Peter Riederer, Manfred Gerlach, Katrin Marcus   +10 more
wiley   +1 more source

MxB is an interferon-induced restriction factor of human herpesviruses

Nature Communications, 2018
MxB is an interferon-induced GTPase that inhibits HIV replication. Here, Crameri et al. show that MxB restricts replication of herpesviruses by inhibiting delivery of incoming viral DNA into the nucleus, and this antiviral activity depends on MxB’s ...
Michel Crameri, Michael Bauer, Nicole Caduff, Raphael Walker, Fiona Steiner, Francesca D. Franzoso, Cornelia Gujer, Karin Boucke, Talissa Kucera, Andrea Zbinden, Christian Münz, Cornel Fraefel, Urs F. Greber, Jovan Pavlovic   +13 more
doaj   +1 more source

Conformational changes in the GTPase modules of the signal reception particle and its receptor drive initiation of protein translocation [PDF]

, 2007
During cotranslational protein targeting, two guanosine triphosphatase (GTPase) in the signal recognition particle (SRP) and its receptor (SR) form a unique complex in which hydrolyses of both guanosine triphosphates (GTP) are activated in a shared ...
Chandrasekar, Sowmya, Shan, Shu-ou, Walter, Peter   +2 more
core   +4 more sources