SAP30, A NOVEL AUTOPHAGY REGULATORY GENE IN NEUROBLASTOMA

SAP30, a novel autophagy regulatory gene in neuroblastoma

Neuroblastoma (NB), a devastating pediatric cancer originating from neural crest cells crucial for nervous system development, poses a significant therapeutic challenge.Despite chemotherapy being the primary treatment, approximately 70% of high-risk NB cases develop resistance.Autophagy is vital for neuronal development, balance, and differentiatio

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Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP.

X-linked lymphoproliferative disease (XLP) is a primary immunodeficiency caused by mutations in SH2D1A which encodes SAP.SAP functions in signalling pathways elicited by the SLAM family of leukocyte receptors.A defining feature of XLP is exquisite sensitivity to infection with EBV, a B-lymphotropic virus, but not other viruses.Although previous stu

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