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CCDC88C encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway.
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results suggest that the primary cilium or an associated structure influences the domain of cell-intrinsic signals that shape the hair bundle. Daple is therefore essential to orient and pattern sensory hair bundles.
Findings indicate that Daple interacts with Dishevelled to direct the Dishevelled/protein kinase lambda protein complex to activate Rac, which in turn mediates the non-canonical Wnt signalling pathway required for cell migration.
Identification of Daple, a Dvl-binding protein, that suppresses Wnt signalling pathway.
This work not only identifies Daple as a platform for cross-talk between Akt and the noncanonical Wnt pathway but also reveals the impact of such cross-talk on tumor cell phenotypes that are critical for cancer initiation and progression.
we demonstrated the relevance of Daple expression to gastric cancer progression.
Thus, Daple activates Galphai proteins and enhances non-canonical Wnt signaling by Frizzled receptors, and its dysregulation can impact both tumor initiation and progression to metastasis.
Spinocerebellar ataxia 40 (SCA40) displays typical cerebellar ataxia signs and pontocerebellar atrophy. Whole-exome sequencing led to the identification of a novel missense mutation in the gene CCDC88C in all SCA40-affected individuals. Cell-based assays showed that the SCA40 mutation causes an up-regulation of the JNK stress kinase signaling cascade that subsequently triggers programmed cell death.
LDI-PCR revealed a fusion between CCDC88C exon 25 and PDGFRB exon 11.
Our data validate CCDC88C as causing autosomal recessive, primary non-syndromic congenital hydrocephalus, suggesting this gene may be an important cause of congenital hydrocephalus.
This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus\; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain.
DVL-binding protein DAPLE
, coiled-coil domain-containing protein 88C
, dvl-associating protein with a high frequency of leucine residues
, protein Daple
, coiled-coil domain containing 88C
, Dvl-associating protein with a high frequency of leucine residues
, hook-related protein 2