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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

Structure and function analysis of a type III preQ1-I riboswitch from Escherichia coli reveals direct metabolite sensing by the Shine-Dalgarno sequence

Authors: Griffin M Schroeder , Daniil Kiliushik , Jermaine L Jenkins , Joseph E Wedekind

Journal: J Biol Chem .

PubMed ID: 37660906

Doi: 10.1016/j.jbc.2023.105208

Products & Services: Mutagenesis Services

Intracellular K limits T cell exhaustion and preserves antitumor function

Authors: Camille Collier, Kelly Wucherer, Matthew McWhorter, Chelsea Jenkins, Alexandra Bartlett, Rahul Roychoudhuri, Robert Eil

Journal: biorxiv

PubMed ID: 37745435

Doi: 10.1101/2023.09.13.556997

Products & Services: Mutagenesis Services

A Proteorhodopsin-Related Photosensor Expands the Repertoire of Structural Motifs Employed by Sensory Rhodopsins

Authors: Maryam Saliminasab, Yoichi Yamazaki, Alyssa Palmateer, Andrew Harris, Luiz Schubert, Pit Langner, Joachim Heberle, Ana-Nicoleta Bondar, Leonid S Brown

Journal: J Phys Chem B

PubMed ID: 37694950

Doi: 10.1021/acs.jpcb.3c04032

Products & Services: Mutant Libraries Mutagenesis Services Gene Synthesis

Functional Impact of a Cancer-Related Variant in Human Δ1-Pyrroline-5-Carboxylate Reductase 1

Authors: Oseeyi I Daudu , Kaylen R Meeks , Lu Zhang , Javier Seravalli , John J Tanner , Donald F Becker

Journal: ACS Omega .

PubMed ID: 36713721

Doi: 10.1021/acsomega.2c07788

Products & Services: Mutagenesis Services

S-acylation of Sprouty and SPRED proteins by the S-acyltransferase zDHHC17 involves a novel mode of enzyme-substrate interaction

Authors: Liam Butler , Carolina Locatelli , Despoina Allagioti , Irina Lousa , Kimon Lemonidis , Nicholas C O Tomkinson , Christine Salaun , Luke H Chamberlain

Journal: J Biol Chem

PubMed ID: 36442513

Doi: 10.1016/j.jbc.2022.102754

Products & Services: Mutagenesis Services ORF cDNA Clones/MolecularCloud

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

Authors: Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A Dyment, Kristin D Kernohan

Journal: Genes

PubMed ID: 36672848

Doi: 10.3390/genes14010108

Products & Services: Mutagenesis Services

The Integration of Proteome-Wide PTM Data with Protein Structural and Sequence Features Identifies Phosphorylations that Mediate 14-3-3 Interactions

Authors: C M Egbert, L R Warr, K L Pennington, M M Thornton, A J Vaughan, S W Ashworth, M J Heaton, N English, M P Torres, J L Andersen

Journal: J Mol Biol

PubMed ID: 36402225

Doi: 10.1016/j.jmb.2022.167890

Products & Services: Mutagenesis Services

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