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Autor:
Małgorzata Rydzanicz, Peter J. Brophy, Joanna Kosińska, Anna Biernacka, Robert Smigiel, Dorota Mikolajkow, Barbara Królak-Olejnik, Maria M. Sasiadek, Diane L. Sherman, Anna Walczak, Witalij Andrzejewski, Rafał Płoski, Paweł Krajewski, Maria Boczar, Malgorzata Marciniak, Piotr Gasperowicz, Piotr Stawiński
Publikováno v:
Human Molecular Genetics
Smigiel, R, Sherman, D L, Rydzanicz, M, Walczak, A, Mikolajkow, D, Krolak-Olejnik, B, Kosinska, J, Gasperowicz, P, Biernacka, A, Stawinski, P, Marciniak, M, Andrzejewski, W, Boczar, M, Krajewski, P, Sasiadek, M M, Brophy, P J & Ploski, R 2018, ' Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia ', Human Molecular Genetics, vol. 27, no. 21, pp. 3669–3674 . https://doi.org/10.1093/hmg/ddy277
Smigiel, R, Sherman, D L, Rydzanicz, M, Walczak, A, Mikolajkow, D, Krolak-Olejnik, B, Kosinska, J, Gasperowicz, P, Biernacka, A, Stawinski, P, Marciniak, M, Andrzejewski, W, Boczar, M, Krajewski, P, Sasiadek, M M, Brophy, P J & Ploski, R 2018, ' Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia ', Human Molecular Genetics, vol. 27, no. 21, pp. 3669–3674 . https://doi.org/10.1093/hmg/ddy277
The Neurofascins (NFASCs) are a family of proteins encoded by alternative transcripts of NFASC that cooperate in the assembly of the node of Ranvier in myelinated nerves. Differential expression of NFASC in neurons and glia presents a remarkable exam