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identified the second mutation in CEP135, confirming the role during embryonic brain development and in the pathophysiology of human primary microcephaly
Authors suggest that the decrease in CEP135(mini) from centrosomes promotes centriole assembly. The repression of centriole duplication by a splice isoform of a protein that normally promotes it serves as a novel mechanism to limit centriole duplication.
These findings support a model in which PKC-mediated phosphorylation of CEP4 at Ser (show SIGLEC1 ELISA Kits)(18) and Ser (show SIGLEC1 ELISA Kits)(80) causes its dissociation from Cdc42 (show CDC42 ELISA Kits), thereby increasing its affinity for TEM4 and producing Rac (show AKT1 ELISA Kits) activation, filopodium formation, and cell motility
Authors propose that CEP135 directly connects the central hub protein, hSAS (show L1CAM ELISA Kits)-6, to the outer microtubules, and suggest that this interaction stabilizes the proper cartwheel structure for further CPAP (show CENPJ ELISA Kits)-mediated centriole elongation.
A truncating mutation of CEP135 caused autosomal-recessive primary microcephaly in a Pakistani family.
CEP135 acts as a platform protein for C-NAP1 (show CEP250 ELISA Kits) at the centriole.
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8.
centrosomal protein 135kDa
, centrosome protein 4
, centrosomal protein of 135 kDa
, centrosome protein 4-like
, centrosomal protein of 135 kDa-like
, centrosomal protein 4
, centrosome protein cep135