Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

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 example of cell-type specific expression of protein is...

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Detalles Bibliográficos
Autores principales: Smigiel, Robert, Sherman, Diane L, Rydzanicz, Małgorzata, Walczak, Anna, Mikolajkow, Dorota, Krolak-Olejnik, Barbara, Kosińska, Joanna, Gasperowicz, Piotr, Biernacka, Anna, Stawinski, Piotr, Marciniak, Malgorzata, Andrzejewski, Witalij, Boczar, Maria, Krajewski, Paweł, Sasiadek, Maria M, Brophy, Peter J, Ploski, Rafal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196652/
https://www.ncbi.nlm.nih.gov/pubmed/30124836
http://dx.doi.org/10.1093/hmg/ddy277

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