Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs
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DOI: 10.1038/s41431-018-0179-2
Abstract: 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… read more here.
Keywords: hypomyelination brain; ptpn23 variants; brain atrophy;
Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia
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DOI: 10.3390/brainsci11050614
Abstract: The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as ‘pure’ when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and ‘complex’ when associated… read more here.
Keywords: ptpn23; ptpn23 variants; frameshift; hereditary spastic ... See more keywords