CAMK2; four genes, one syndrome? Delineation of genotype–phenotype correlations

Autor: Cheung, Joshua S., van Woerden, Geeske M., Veenma, Danielle C.M.

Publikováno v: In Current Opinion in Neurobiology February 2025 90

Role of CAMK2D in neurodevelopment and associated conditions

Autor: Rigter, Pomme M.F., de Konink, Charlotte, Dunn, Matthew J., Proietti Onori, Martina, Humberson, Jennifer B., Thomas, Matthew, Barnes, Caitlin, Prada, Carlos E., Weaver, K. Nicole, Ryan, Thomas D., Caluseriu, Oana, Conway, Jennifer, Calamaro, Emily, Fong, Chin-To, Wuyts, Wim, Meuwissen, Marije, Hordijk, Eva, Jonkers, Carsten N., Anderson, Lucas, Yuseinova, Berfin, Polonia, Sarah, Beysen, Diane, Stark, Zornitza, Savva, Elena, Poulton, Cathryn, McKenzie, Fiona, Bhoj, Elizabeth, Bupp, Caleb P., Bézieau, Stéphane, Mercier, Sandra, Blevins, Amy, Wentzensen, Ingrid M., Xia, Fan, Rosenfeld, Jill A., Hsieh, Tzung-Chien, Krawitz, Peter M., Elbracht, Miriam, Veenma, Danielle C.M., Schulman, Howard, Stratton, Margaret M., Küry, Sébastien, van Woerden, Geeske M.

Publikováno v: In The American Journal of Human Genetics 1 February 2024 111(2):364-382

GHB analogs confer neuroprotection through specific interaction with the CaMKIIα hub domain

Autor: Leurs, Ulrike, Klein, Anders B., McSpadden, Ethan D., Griem-Krey, Nane, Solbak, Sara M. Ø., Houlton, Josh, Villumsen, Inge S., Vogensen, Stine B., Hamborg, Louise, Gauger, Stine J., Palmelund, Line B., Larsen, Anne Sofie G., Shehata, Mohamed A., Kelstrup, Christian D., Olsen, Jesper V., Bach, Anders, Burnie, Robert O., Kerr, D. Steven, Gowing, Emma K., Teurlings, Selina M. W., Chi, Chris C., Gee, Christine L., Frølund, Bente, Kornum, Birgitte R., van Woerden, Geeske M., Clausen, Rasmus P., Kuriyan, John, Clarkson, Andrew N., Wellendorph, Petrine

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2021 Aug 01. 118(31), 1-9.

Externí odkaz: https://www.jstor.org/stable/27052728

Development of a medium throughput whole-cell microtiter plate Thr286 autophosphorylation assay for CaMKIIα using ELISA

Autor: Palmelund, Line B., van Woerden, Geeske M., Bräuner-Osborne, Hans, Wellendorph, Petrine

Publikováno v: In Journal of Pharmacological and Toxicological Methods November-December 2022 118

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Autor: Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Prescott, Trine E., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Elgersma, Ype, Mercier, Sandra

Publikováno v: In The American Journal of Human Genetics 2 November 2017 101(5):768-788