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Page 1
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb Y, Schneeberger PE, Fernández-Quintero ML, Geisler SM, Pelizzari S, Polstra AM, van Hagen JM, Denecke J, Campiglio M, Liedl KR, Stevens CA, Person RE, Rentas S, Marsh ED, Conlin LK, Tuluc P, Kutsche K, Flucher BE. El Ghaleb Y, et al. Brain. 2021 Aug 17;144(7):2092-2106. doi: 10.1093/brain/awab101. Brain. 2021. PMID: 33704440 Free PMC article.
CaV3.3 Channelopathies.
El Ghaleb Y, Flucher BE. El Ghaleb Y, et al. Handb Exp Pharmacol. 2023;279:263-288. doi: 10.1007/164_2022_631. Handb Exp Pharmacol. 2023. PMID: 36592228
Skeletal muscle CaV1.1 channelopathies.
Flucher BE. Flucher BE. Pflugers Arch. 2020 Jul;472(7):739-754. doi: 10.1007/s00424-020-02368-3. Epub 2020 Mar 28. Pflugers Arch. 2020. PMID: 32222817 Free PMC article. Review.
Neuronal α2δ proteins and brain disorders.
Ablinger C, Geisler SM, Stanika RI, Klein CT, Obermair GJ. Ablinger C, et al. Pflugers Arch. 2020 Jul;472(7):845-863. doi: 10.1007/s00424-020-02420-2. Epub 2020 Jun 30. Pflugers Arch. 2020. PMID: 32607809 Free PMC article. Review.
The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ, Sah A, Paradiso E, Shin J, Stojanovic S, Hammer N, Haritonova M, Hofer NT, Marcantoni A, Guarina L, Tuluc P, Theiner T, Pitterl F, Ebner K, Oberacher H, Carbone E, Stefanova N, Ferraguti F, Singewald N, Roeper J, Striessnig J. Ortner NJ, et al. JCI Insight. 2023 Oct 23;8(20):e162100. doi: 10.1172/jci.insight.162100. JCI Insight. 2023. PMID: 37698939 Free PMC article.
Presynaptic α2δ subunits are key organizers of glutamatergic synapses.
Schöpf CL, Ablinger C, Geisler SM, Stanika RI, Campiglio M, Kaufmann WA, Nimmervoll B, Schlick B, Brockhaus J, Missler M, Shigemoto R, Obermair GJ. Schöpf CL, et al. Proc Natl Acad Sci U S A. 2021 Apr 6;118(14):e1920827118. doi: 10.1073/pnas.1920827118. Proc Natl Acad Sci U S A. 2021. PMID: 33782113 Free PMC article.
Cav1.4 dysfunction and congenital stationary night blindness type 2.
Koschak A, Fernandez-Quintero ML, Heigl T, Ruzza M, Seitter H, Zanetti L. Koschak A, et al. Pflugers Arch. 2021 Sep;473(9):1437-1454. doi: 10.1007/s00424-021-02570-x. Epub 2021 Jul 1. Pflugers Arch. 2021. PMID: 34212239 Free PMC article. Review.
43 results