Effect of progerin on genes involved in progeria (WP4320)
Homo sapiens
The effect of progerin on the involved genes in progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS). Each colored box shows a different element of the pathway. The red box on the upper right shows that upregulation of the p53 pathway leads to apoptosis and senescence. The box beneath the red one, the purple one, indicates the inhibition of the Wnt pathway by progerin which results in bone abnormalities. The blue box portrays the epigenetic changes done by heterochromatin and euchromatin silencing. The green box shows that progerin activates SKIP which stimulates the Notch signaling pathway. The orange box surrounds the Mi-2/NuRD complex which is depleted by progerin leading mainly to epigenetic changes. The final yellow box shows the inhibition of SERBP1 by progerin resulting in dysfunctional adipose tissue. Legend shows basic and MIM-interactions and indication for methylation.
Authors
Lora Simons , Denise Slenter , Friederike Ehrhart , Eric Weitz , and Egon WillighagenActivity
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Organisms
Homo sapiensCommunities
Diseases Rare DiseasesAnnotations
Pathway Ontology
disease pathwayDisease Ontology
progeriaReferences
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