Article
De novo variants in ATP2B1 lead to neurodevelopmental delay.
American journal of human genetics - 5 May 2022
Rahimi Meer Jacob, Urban Nicole, Wegler Meret, Sticht Heinrich, Schaefer Michael, Popp Bernt, Gaunitz Frank, Morleo Manuela, Nigro Vincenzo, Maitz Silvia, Mancini Grazia M S, Ruivenkamp Claudia, Suk Eun-Kyung, Bartolomaeus Tobias, Merkenschlager Andreas, Koboldt Daniel, Bartholomew Dennis, Stegmann Alexander P A, Sinnema Margje, Duynisveld Irma, Salvarinova Ramona, Race Simone, de Vries Bert B A, Trimouille Aurélien, Naudion Sophie, Marom Daphna, Hamiel Uri, Henig Noa, Demurger Florence, Rahner Nils, Bartels Enrika, Hamm J Austin, Putnam Abbey M, Person Richard, Abou Jamra Rami, Oppermann Henry
Abstract excerpt
Calcium (Ca2+) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca2+ transporting 1 (ATP2B1) belongs to the family of ATP-driven calmodulin-dependent Ca2+ pumps that participate in the regulation of intracellular free Ca2+. Here, we clinically describe a cohort of 12 unrelated individuals with variants in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.