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Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy.
Quinn S, Zhang N, Fenton TA, Brusel M, Muruganandam P, Peleg Y, Giladi M, Haitin Y, Lerche H, Bassan H, Liu Y, Ben-Shalom R, Rubinstein M. Quinn S, et al. Among authors: brusel m. Biochim Biophys Acta Mol Basis Dis. 2024 Jun;1870(5):167127. doi: 10.1016/j.bbadis.2024.167127. Epub 2024 Mar 20. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38519006 Free article.
COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing.
Barnes AM, Ashok A, Makareeva EN, Brusel M, Cabral WA, Weis M, Moali C, Bettler E, Eyre DR, Cassella JP, Leikin S, Hulmes DJS, Kessler E, Marini JC. Barnes AM, et al. Among authors: brusel m. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2210-2223. doi: 10.1016/j.bbadis.2019.04.018. Epub 2019 May 2. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31055083 Free PMC article.
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