Table 1 Dysregulated downstream effectors in RASopathies based on immunoblotting
RASopathy | Up | Down |
|---|---|---|
CFC | AKT1 ERK1 ERK2 | AKT1 ERK1 ERK2 VEGFR2 |
CS | AKT1 ERK1 ERK2 P53 RAF1 | nd |
JMML | ERK1 ERK2 STAT5A | nd |
LS | ERK1 ERK2 | RAF1 |
NF1 | ERK1 ERK2 Synapsin-1 | DPYSL2 |
NS | AKT1 BRAF ERK1 ERK2 FAK1 FER GSK-3α IGF1R INSR JNK1 MEK1 MPZL1 P70S6K1 PECA1 RAF1 SHPS1 STAT5 VEGFR2 | ANT1 GluN2B MEK1 RAF1 |
NSL | p90RSK3 S6K-alpha-1 S6K-alpha-2 | nd |
NSLSH | nd | ERK1 RAF1 |
NSML | AKT1 BRAF CAV2 EGFR ERK1 ERK2 FAK1 FER GSK-3α IGF1R INSR JNK1 MEK1 MPZL1 P70S6K1 PECA1 RAF1 SHPS1 STAT3 Tuberin | ERK1 ERK2 LKC MEK1 P70S6K1 RAF1 Vinculin |