Now showing items 1-2 of 2

    • Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy. 

      Dahimene, S; von Elsner, L; Holling, T; Mattas, LS; Pickard, J; Lessel, D; Pilch, KS; Kadurin, I; Pratt, WS; Zhulin, IB (2022-08-27)
      Voltage-gated calcium (CaV) channels form three subfamilies (CaV1-3). The CaV1 and CaV2 channels are heteromeric, consisting of an α1 pore-forming subunit, associated with auxiliary CaVβ and α2δ subunits. The α2δ subunits ...
    • Cell-type specialization is encoded by specific chromatin topologies. 

      Winick-Ng, W; Kukalev, A; Harabula, I; Zea-Redondo, L; Szabó, D; Meijer, M; Serebreni, L; Zhang, Y; Bianco, S; Chiariello, AM (2021-11)
      The three-dimensional (3D) structure of chromatin is intrinsically associated with gene regulation and cell function1-3. Methods based on chromatin conformation capture have mapped chromatin structures in neuronal systems ...