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Mitochondrial amidoxime-reducing component 1 p.Ala165Thr increases protein degradation mediated by the proteasome
Authors: Tanmoy Dutta, Kavitha Sasidharan, Ester Ciociola, Grazia Pennisi, Francesca R Noto, Lohitesh Kovooru, Tobias Kroon, Anna Lindblom, Yue Du, Mohammad Pirmoradian, Simonetta Wallin, Rosellina M Mancina, Daniel Lindén, Stefano Romeo
Journal: Liver Int
PubMed ID: 38375985
Doi: 10.1111/liv.15857
Products & Services: Mutagenesis Services   
Pharmacologic Characterization of LTGO-33, a Selective Small Molecule Inhibitor of the Voltage-Gated Sodium Channel Na18 with a Unique Mechanism of Action
Authors: John M Gilchrist, Nien-Du Yang, Victoria Jiang, Bryan D Moyer
Journal: Mol Pharmacol
PubMed ID: 38195157
Doi: 10.1124/molpharm.123.000789
Products & Services: Mutagenesis Services   
Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders
Authors: Nate Shepard, David Baez-Nieto, Sumaiya Iqbal, Erkin Kurganov, Nikita Budnik, Arthur J Campbell, Jen Q Pan, Morgan Sheng, Zohreh Farsi
Journal: Sci Rep
PubMed ID: 38307912
Doi: 10.1038/s41598-024-53102-3
Products & Services: Mutagenesis Services   
A mutational atlas for Parkin proteostasis
Authors: Lene Clausen, Vasileios Voutsinos, Matteo Cagiada, Kristoffer E Johansson, Martin Grønbæk-Thygesen, Snehal Nariya, Rachel L Powell, Magnus K N Have, Vibe H Oestergaard, Amelie Stein, Douglas M Fowler, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Journal: Nat Commun
PubMed ID: 38378758
Doi: 10.1038/s41467-024-45829-4
Products & Services: Mutagenesis Services   
The catalytic action of human d-lactate dehydrogenase is severely inhibited by oxalate and is impaired by mutations triggering d-lactate acidosis
Authors: Alessandra Stefan, Alberto Mucchi, Alejandro Hochkoeppler
Journal: Arch Biochem Biophys
PubMed ID: 38373542
Doi: 10.1016/j.abb.2024.109932
Products & Services: Mutagenesis Services   
Performance of Three Anti-SARS-CoV-2 Anti-S and One Anti-N Immunoassays for the Monitoring of Immune Status and Vaccine Response
Authors: Y Victoria Zhang, Attila Kumanovics, Joesph Wiencek, Stacy E F Melanson, Tanzy Love, Alan H B Wu, Zhen Zhao, Qing H Meng, David D Koch, Fred S Apple, Caitlin R Ondracek, Robert H Christenson
Journal: Viruses
PubMed ID: 38400067
Doi: 10.3390/v16020292
Products & Services: Mutagenesis Services   
Pharmacogenomics of poor drug metabolism in greyhounds: Canine P450 oxidoreductase genetic variation, breed heterogeneity, and functional characterization
Authors: Stephanie E Martinez, Amit V Pandey, Tania E Perez Jimenez, Zhaohui Zhu, Michael H Court
Journal: PLoS ONE
PubMed ID: 38300925
Doi: 10.1371/journal.pone.0297191
Products & Services: Mutagenesis Services   
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing
Authors: Kostantin Kiianitsa, Maria E Lukes, Brian J Hayes, Julianna Brutman, Paul N Valdmanis, Thomas D Bird, Wendy H Raskind, Olena Korvatska
Journal: Brain
PubMed ID: 38226698
Doi: 10.1093/brain/awae014
Products & Services: Gene Synthesis   Mutagenesis Services   Plasmid DNA Preparation   
Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells
Authors: Gabor Tax, Kevin P Guay, Ludovica Pantalone, Martina Ceci, Tatiana Soldà, Charlie J Hitchman, Johan C Hill, Snežana Vasiljević, Andrea Lia, Carlos P Modenutti, Kees R Straatman, Angelo Santino, Maurizio Molinari, Nicole Zitzmann, Daniel N Hebert, Pietro Roversi, Marco Trerotola
Journal: Traffic
PubMed ID: 38272446
Doi: 10.1111/tra.12927
Products & Services: Mutagenesis Services   
Effect of l-serine and magnesium ions on the functional properties of human phosphoserine phosphatase and its pathogenetic variants
Authors: Francesco Marchesani, Valeria Buoli Comani, Stefano Bruno, Andrea Mozzarelli, Mauro Carcelli, Loredano Pollegioni, Laura Caldinelli, Alessio Peracchi, Barbara Campanini
Journal: Biochim Biophys Acta Mol Basis Dis
PubMed ID: 38278334
Doi: 10.1016/j.bbadis.2024.167034
Products & Services: Mutagenesis Services   

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