Simpson-golabi-behmel syndrome

Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Hedgehog 'off' state Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2 +5 more

Proteoglycans in cancer A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis HS-GAG degradation Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective EXT2 causes exostoses 2 Defective EXT1 causes exostoses 1, TRPS2 and CHDS Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Defective B3GALT6 causes EDSP2 and SEMDJL1 Post-translational protein phosphorylation Retinoid metabolism and transport +9 more

Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Hedgehog 'off' state Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2 +5 more