The neurodevelopmental, jaw, eye, and digital syndrome shows high clinical variability and is caused by heterozygous FBXW11 missense variants. FBXW11 encodes an F-box protein containing a WD40 domain that forms a seven-bladed β-propeller. FBXW11 is part of the SKP1-CUL1-F-box (SCF) E3 ubiquitin ligase complex, which me...
Debora Tibbe, Robert J. Volbracht, A. Biabani et al.· Scientific Reports· 0 citations
Viral infections have long been proposed as environmental contributors to neurodegenerative diseases, including Parkinson's disease (PD), yet the molecular mechanisms linking infection and neurodegeneration are not well defined. Neuroinflammation and disruption of central nervous system (CNS) homeostasis have emerged a...
M. M. Belyea, M. Shafiq, J. Laß et al.· medRxiv· 0 citations
Using single-nucleus RNA-sequencing analysis of RGCs from donors with MS and control individuals, it is found that CFH expression was strongly correlated with intrinsic resilience to RGC degeneration and reveals a non-canonical intracellular function of CFH in neurons.
Christina Mayer, Marcel S. Woo, J. Sonner et al.· Nature· 0 citations
These findings provide the first comprehensive molecular characterization of EVs released by MCPyV-positive MCC cells and establish a foundation for investigating the contribution of EV-mediated communication to MCC biology and tumor–microenvironment interactions.
U. Westerkamp, Patrick Blümke, Amanda Salviano-Silva et al.· bioRxiv· 0 citations
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