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Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
Imbrici P, Altamura C, Camerino GM, Mangiatordi GF, Conte E, Maggi L, Brugnoni R, Musaraj K, Caloiero R, Alberga D, Marsano RM, Ricci G, Siciliano G, Nicolotti O, Mora M, Bernasconi P, Desaphy JF, Mantegazza R, Camerino DC. Imbrici P, et al. Among authors: altamura c. FASEB J. 2016 Oct;30(10):3285-3295. doi: 10.1096/fj.201500079R. Epub 2016 Jun 20. FASEB J. 2016. PMID: 27324117 Free PMC article.
Furthermore, it could be relevant to the study and therapy of any channelopathy.-Imbrici, P., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R., Alberga, D., Marsano, R. M., Ricci, G., Siciliano, G., Nic …
Furthermore, it could be relevant to the study and therapy of any channelopathy.-Imbrici, P., Altamura, C., Camerino, G. M., M …
ClC-1 chloride channels: state-of-the-art research and future challenges.
Imbrici P, Altamura C, Pessia M, Mantegazza R, Desaphy JF, Camerino DC. Imbrici P, et al. Among authors: altamura c. Front Cell Neurosci. 2015 Apr 27;9:156. doi: 10.3389/fncel.2015.00156. eCollection 2015. Front Cell Neurosci. 2015. PMID: 25964741 Free PMC article. Review.
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
Imbrici P, Maggi L, Mangiatordi GF, Dinardo MM, Altamura C, Brugnoni R, Alberga D, Pinter GL, Ricci G, Siciliano G, Micheli R, Annicchiarico G, Lattanzi G, Nicolotti O, Morandi L, Bernasconi P, Desaphy JF, Mantegazza R, Camerino DC. Imbrici P, et al. Among authors: altamura c. J Physiol. 2015 Sep 15;593(18):4181-99. doi: 10.1113/JP270358. Epub 2015 Jul 14. J Physiol. 2015. PMID: 26096614 Free PMC article.
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
Maggi L, Ravaglia S, Farinato A, Brugnoni R, Altamura C, Imbrici P, Camerino DC, Padovani A, Mantegazza R, Bernasconi P, Desaphy JF, Filosto M. Maggi L, et al. Among authors: altamura c. Neurogenetics. 2017 Dec;18(4):219-225. doi: 10.1007/s10048-017-0525-5. Epub 2017 Oct 9. Neurogenetics. 2017. PMID: 28993909
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF. Altamura C, et al. Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29935101 Free article.
248 results