Zobrazeno 1 - 2
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pro vyhledávání: '"Kathryn F Oetjens"'
Autor:
Katrine M. Johannesen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Møller, Guido Rubboli
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionSLC6A1 is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders. SLC6A1-neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID),
Externí odkaz:
https://doaj.org/article/9b772a0cf1ac4bf7a6f55e11c80726d3
Autor:
Brendan Lee, Claudia A. L. Ruivenkamp, Mary Kay Koenig, Rui Xiao, Mir Reza Bekheirnia, Kathryn F Oetjens, Jennifer E. Posey, Christine M. Eng, Farah Kanani, Pengfei Liu, Michael Parker, Emily Palen, Jill A. Rosenfeld, Jorge Pinto Basto, Joaquim Sá, Yaping Yang, Joana Rosmaninho-Salgado, Lindsay C. Burrage, Fan Xia, Pedro M Almeida, Arie van Haeringen
Publikováno v:
American Journal of Medical Genetics Part A, 185(7), 2037-2045. WILEY
Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization of essential membrane proteins, signal transduction, and cellular scaffolding. Spectrins are assembled from alpha