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

doi:10.1093/hmg/ddy277

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Article

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

Human molecular genetics - 1 Nov 2018

Smigiel Robert, Sherman Diane L, Rydzanicz Malgorzata, Walczak Anna, Mikolajkow Dorota, Krolak-Olejnik Barbara, Kosinska Joanna, Gasperowicz Piotr, Biernacka Anna, Stawinski Piotr, Marciniak Malgorzata, Andrzejewski Witalij, Boczar Maria, Krajewski Pawel, Sasiadek Maria M, Brophy Peter J, Ploski Rafal

Abstract excerpt

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 isoforms with a common overall function. In mice there are three NFASC isoforms: Nfasc186 and Nfasc140, located in the...

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PMID: 30124836
DOI: 10.1093/hmg/ddy277
PMCID: PMC6196652

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NFASC

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