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Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.
Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Németh AH. Lise S, et al. Among authors: suminaite d. PLoS Genet. 2012;8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6. PLoS Genet. 2012. PMID: 23236289 Free PMC article.
CNS Hypomyelination Disrupts Axonal Conduction and Behavior in Larval Zebrafish.
Madden ME, Suminaite D, Ortiz E, Early JJ, Koudelka S, Livesey MR, Bianco IH, Granato M, Lyons DA. Madden ME, et al. Among authors: suminaite d. J Neurosci. 2021 Nov 3;41(44):9099-9111. doi: 10.1523/JNEUROSCI.0842-21.2021. Epub 2021 Sep 20. J Neurosci. 2021. PMID: 34544838 Free PMC article.
Neuronal activity disrupts myelinated axon integrity in the absence of NKCC1b.
Marshall-Phelps KLH, Kegel L, Baraban M, Ruhwedel T, Almeida RG, Rubio-Brotons M, Klingseisen A, Benito-Kwiecinski SK, Early JJ, Bin JM, Suminaite D, Livesey MR, Möbius W, Poole RJ, Lyons DA. Marshall-Phelps KLH, et al. Among authors: suminaite d. J Cell Biol. 2020 Jul 6;219(7):e201909022. doi: 10.1083/jcb.201909022. J Cell Biol. 2020. PMID: 32364583 Free PMC article.