Results 271 to 280 of about 2,577,793 (359)

Investigation of the Roles of the Adenosine A(2A) and Metabotropic Glutamate Receptor Type 5 (mGlu5) Receptors in Prepulse Inhibition and CREB Signaling in a Heritable Rodent Model of Psychosis. [PDF]

Cells
Cuozzo AM, Peeters LD, Ahmed CD, Wills LJ, Gass JT, Brown RW.   +5 more
europepmc   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Photoswitchable positive allosteric modulators of metabotropic glutamate receptor 4 to improve selectivity. [PDF]

iScience
Panarello S, González-Díez A, Berizzi AE, Malhaire F, Borràs-Tudurí R, Rovira X, Serra C, Prézeau L, Pin JP, Goudet C, Llebaria A, Gómez-Santacana X.   +11 more
europepmc   +1 more source

The FindMNDBiomarker Program: Protein Changes in Motor Neuron Disease/Amyotrophic Lateral Sclerosis Postmortem Tissue and Biofluids

Annals of Neurology, EarlyView.
Objective Biomarkers of disease pathogenesis are critically needed for amyotrophic lateral sclerosis (ALS) to facilitate diagnosis and patient stratification into appropriate therapeutic trials. Proteomic studies offer significant potential to advance this, but reproducibility across laboratories is a key component toward identifying protein changes ...
Gabrielle L. Adler, Matthew C. Kiernan, Rachel H. Tan   +2 more
wiley   +1 more source

Editorial: Emerging insights in glutamate receptor signaling in psychiatric, neurodevelopmental, and neurodegenerative diseases. [PDF]

Front Cell Dev Biol
Abd-Elrahman KS, Beaulieu JM, Ferguson SSG.   +2 more
europepmc   +1 more source

The Comprehensive Roadmap Toward Malaria Elimination Using Graphene and its Promising 2D Analogs

Advanced NanoBiomed Research, EarlyView.
Material based on a diversity of graphene with chemical properties of strong strength, high mobility, high transparency, good heat conductivity, biocompatibility, and chemical stability, advanced devices demonstrating antimalarial characteristics can be used for malaria treatment at different stages of malaria development from the injection of ...
Fangzhou He, George Junior, Rajashree Konar, Yuanding Huang, Ke Zhang, Lijing Ke, Meng Niu, Boon Tong Goh, Amine El Moutaouakil, Gilbert Daniel Nessim, Mohamed Belmoubarik, Weng Kung Peng   +11 more
wiley   +1 more source

Roles of metabotropic glutamate receptor 5 in low [Mg²⁺]_o-induced interictal epileptiform activity in rat hippocampal slices. [PDF]

Korean J Physiol Pharmacol
Yang JS, Jang HJ, Sung KW, Rhie DJ, Yoon SH.   +4 more
europepmc   +1 more source

Developing HaloTag and SNAP‐Tag Chemical Inducers of Dimerization to Probe Receptor Oligomerization and Downstream Signaling

Angewandte Chemie International Edition, EarlyView.
Controlling protein interactions is key to studying signaling. Antibody methods have limits, but chemical inducers of dimerization (CIDs) using HaloTags and SNAP‐Tags offer precise control. We present CIDs to covalently link heteromers with varied linkers and a FRET‐based sensor.
Michael Trumpp, Blaise Gatin‐Fraudet, Kjell Bruckmann, Wiktor Burdzinski, Kilian Roßmann, Joshua Levitz, Petra Knaus, Jerome Jatzlau, Johannes Broichhagen   +8 more
wiley   +1 more source