Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Autor: Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)

Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a

Externí odkaz: https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism

Autor: Jun Wu, Or Kakhlon, Miguel Weil, Alexander Lossos, Berge A Minassian

Publikováno v: EMBO Molecular Medicine, Vol 16, Iss 5, Pp 1047-1050 (2024)

In this Correspondence, B. Minassian and colleagues report that GHF201, an autophagy activator shown to diminish abnormal glycogen aggregates in a mouse model of Adult Polyglucosan Body Disease, fails to reduce such accumulations in a mouse model of

Externí odkaz: https://doaj.org/article/f1eafe5e323e4f9c8791fb43a4463959

Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy

Autor: Sharmistha Mitra, Baozhi Chen, Peixiang Wang, Erin E. Chown, Mathew Dear, Dikran R. Guisso, Ummay Mariam, Jun Wu, Emrah Gumusgoz, Berge A. Minassian

Publikováno v: Disease Models & Mechanisms, Vol 16, Iss 1 (2023)

Externí odkaz: https://doaj.org/article/24f6a47e51664198bbbbbe98bb91751b

$\texttt{UFig v1}$: The ultra-fast image generator

Autor: Fischbacher, Silvan, Moser, Beatrice, Kacprzak, Tomasz, Tortorelli, Luca, Herbel, Joerg, Bruderer, Claudio, Schmitt, Uwe, Refregier, Alexandre, Berge, Joel, Gamper, Lukas, Amara, Adam

With the rise of simulation-based inference (SBI) methods, simulations need to be fast as well as realistic. $\texttt{UFig v1}$ is a public Python package that generates simulated astronomical images with exceptional speed - taking approximately the

Externí odkaz: http://arxiv.org/abs/2412.08716

High-Statistics Measurement of the Cosmic-Ray Electron Spectrum with H.E.S.S

Autor: Aharonian, F., Benkhali, F. Ait, Aschersleben, J., Ashkar, H., Backes, M., Martins, V. Barbosa, Batzofin, R., Becherini, Y., Berge, D., Bernlöhr, K., Bi, B., Böttcher, M., Boisson, C., Bolmont, J., de Lavergne, M. de Bony, Borowska, J., Bouyahiaoui, M., Brose, R., Brown, A., Brun, F., Bruno, B., Bulik, T., Burger-Scheidlin, C., Bylund, T., Casanova, S., Celic, J., Cerruti, M., Chand, T., Chandra, S., Chen, A., Chibueze, J., Chibueze, O., Collins, T., Cotter, G., Mbarubucyeye, J. Damascene, Devin, J., Djuvsland, J., Dmytriiev, A., Egberts, K., Einecke, S., Ernenwein, J. -P., Fegan, S., Feijen, K., Fontaine, G., Funk, S., Gabici, S., Gallant, Y. A., Glicenstein, J. F., Glombitza, J., Grolleron, G., Heß, B., Hofmann, W., Holch, T. L., Holler, M., Horns, D., Huang, Zhiqiu, Jamrozy, M., Jankowsky, F., Joshi, V., Jung-Richardt, I., Kasai, E., Katarzynski, K., Kerszberg, D., Khatoon, R., Khelifi, B., Kluzniak, W., Komin, Nu., Kosack, K., Kostunin, D., Kundu, A., Lang, R. G., Stum, S. Le, Leitl, F., Lemiere, A., Lemoine-Goumard, M., Lenain, J. -P., Leuschner, F., Luashvili, A., Mackey, J., Malyshev, D., Marandon, V., Marinos, P., Marti-Devesa, G., Marx, R., Meyer, M., Mitchell, A., Moderski, R., Moghadam, M. O., Mohrmann, L., Montanari, A., Moulin, E., de Naurois, M., Niemiec, J., Ohm, S., Olivera-Nieto, L., Wilhelmi, E. de Ona, Ostrowski, M., Panny, S., Panter, M., Parsons, D., Pensec, U., Peron, G., Pühlhofer, G., Punch, M., Quirrenbach, A., Ravikularaman, S., Regeard, M., Reimer, A., Reimer, O., Reis, I., Ren, H., Reville, B., Rieger, F., Rowell, G., Rudak, B., Ruiz-Velasco, E., Sahakian, V., Salzmann, H., Santangelo, A., Sasaki, M., Schäfer, J., Schüssler, F., Schutte, H. M., Shapopi, J. N. S., Sharma, A., Sol, H., Spencer, S., Stawarz, L., Steinmassl, S., Steppa, C., Suzuki, H., Takahashi, T., Tanaka, T., Taylor, A. M., Terrier, R., Tsirou, M., van Eldik, C., Vecchi, M., Venter, C., Vink, J., Wach, T., Wagner, S. J., Wierzcholska, A., Zacharias, M., Zdziarski, A. A., Zech, A., Zywucka, N.

Publikováno v: Phys. Rev. Lett. 133, 221001 (2024)

Owing to their rapid cooling rate and hence loss-limited propagation distance, cosmic-ray electrons and positrons (CRe) at very high energies probe local cosmic-ray accelerators and provide constraints on exotic production mechanisms such as annihila

Externí odkaz: http://arxiv.org/abs/2411.08189