Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

PTPN23 encodes a ubiquitously expressed non-receptor type, catalytically inactive protein-tyrosine phosphatase found in all cells including neurons. Recently, we have identified PTPN23 in a cellular screen for the systematic identification of novel regulators of survival motor neuron (SMN) function...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Smigiel, Robert, Landsberg, Gerd, Schilling, Maximilian, Rydzanicz, Małgorzata, Pollak, Agnieszka, Walczak, Anna, Stodolak, Anna, Stawinski, Piotr, Mierzewska, Hanna, Sasiadek, Maria M., Gruss, Oliver J., Ploski, Rafal
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6138747/
https://ncbi.nlm.nih.gov/pubmed/29899372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0179-2
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