Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ruud Toonen"'
Autor:
Juliane Lauks, Patricia Klemmer, Fatima Farzana, Ramesh Karupothula, Robbert Zalm, Nancy E Cooke, Ka Wan Li, August B Smit, Ruud Toonen, Matthijs Verhage
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e39420 (2012)
Neurobeachin (Nbea) is a multidomain scaffold protein abundant in the brain, where it is highly expressed during development. Nbea-null mice have severe defects in neuromuscular synaptic transmission resulting in lethal paralysis of the newborns. Rec
Externí odkaz:
https://doaj.org/article/0ad1219ee7ac4e6a8531c41d5498cbea
Autor:
Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Rios, Deepa Sirsi, Patrizia Accorsi, Elisabetta Amadori, Guja Astrea, Simona Baldassari, Francesca Beccaria, Antonella Boni, Mauro Budetta, Gaetano Cantalupo, Giuseppe Capovilla, Elisabetta Cesaroni, Valentina Chiesa, Antonietta Coppola, Robertino Dilena, Raffaella Faggioli, Annarita Ferrari, Elena Fiorini, Francesca Madia, Elena Gennaro, Thea Giacomini, Lucio Giordano, Michele Iacomino, Simona Lattanzi, Carla Marini, Maria Margherita Mancardi, Massimo Mastrangelo, Tullio Messana, Carlo Minetti, Lino Nobili, Amanda Papa, Antonia Parmeggiani, Tiziana Pisano, Angelo Russo, Vincenzo Salpietro, Salvatore Savasta, Marcello Scala, Andrea Accogli, Barbara Scelsa, Paolo Scudieri, Alberto Spalice, Nicola Specchio, Marina Trivisano, Michal Tzadok, Massimiliano Valeriani, Maria Stella Vari, Alberto Verrotti, Federico Vigevano, Aglaia Vignoli, Ruud Toonen, Federico Zara, Ingo Helbig, Pasquale Striano
Publikováno v:
Balagura, G, Xian, J, Riva, A, Marchese, F, Zeev, B B, Rios, L, Sirsi, D, Accorsi, P, Amadori, E, Astrea, G, Baldassari, S, Beccaria, F, Boni, A, Budetta, M, Cantalupo, G, Capovilla, G, Cesaroni, E, Chiesa, V, Coppola, A, Dilena, R, Faggioli, R, Ferrari, A, Fiorini, E, Madia, F, Gennaro, E, Giacomini, T, Giordano, L, Iacomino, M, Lattanzi, S, Marini, C, Mancardi, M M, Mastrangelo, M, Messana, T, Minetti, C, Nobili, L, Papa, A, Parmeggiani, A, Pisano, T, Russo, A, Salpietro, V, Savasta, S, Scala, M, Accogli, A, Scelsa, B, Scudieri, P, Spalice, A, Specchio, N, Trivisano, M, Tzadok, M, Valeriani, M, Vari, M S, Verrotti, A, Vigevano, F, Vignoli, A, Toonen, R, Zara, F, Helbig, I & Striano, P 2022, ' Epilepsy Course and Developmental Trajectories in STXBP1-DEE ', Neurology: Genetics, vol. 8, no. 3, e676, pp. 1-15 . https://doi.org/10.1212/NXG.0000000000000676
Neurology: Genetics, 8(3):e676, 1-15. Lippincott Williams and Wilkins
Neurology: Genetics, 8(3):e676, 1-15. Lippincott Williams and Wilkins
Background and ObjectivesClinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in individuals with S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07ca8af23bdf556c10e7ec172d6b0f98
https://doi.org/10.1212/NXG.0000000000000676
https://doi.org/10.1212/NXG.0000000000000676
The Golgi apparatus is the major sorting hub in the secretory pathway and particularly important for protein sorting in neurons. Knowledge about protein localization in Golgi compartments is largely based on work in cell lines. Here, we systematicall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afa7e4216a2a8a774cb8219e41eab976
https://doi.org/10.1101/2022.11.30.518582
https://doi.org/10.1101/2022.11.30.518582
Retrograde trafficking towards the trans-Golgi network (TGN) is important for dense core vesicle (DCV) biogenesis. Here, we used Vti1a/b deficient neurons to study the impact of disturbed retrograde trafficking on Golgi organization and cargo sorting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9aaac090faa0a81cbba6ad426d18b185
https://doi.org/10.1101/2022.06.26.497636
https://doi.org/10.1101/2022.06.26.497636