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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 (Montrer DVL2 Anticorps) to direct the Dishevelled (Montrer DVL2 Anticorps)/protein kinase (Montrer CDK7 Anticorps) lambda protein complex to activate Rac (Montrer AKT1 Anticorps), which in turn mediates the non-canonical Wnt (Montrer WNT2 Anticorps) signalling pathway required for cell migration.
Identification of Daple, a Dvl-binding protein (Montrer NKD1 Anticorps), that suppresses Wnt (Montrer WNT2 Anticorps) signalling pathway.
This work not only identifies Daple as a platform for cross-talk between Akt (Montrer AKT1 Anticorps) and the noncanonical Wnt (Montrer WNT2 Anticorps) 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 (Montrer MAPK8 Anticorps) stress kinase signaling cascade that subsequently triggers programmed cell death.
LDI-PCR revealed a fusion between CCDC88C exon 25 and PDGFRB (Montrer PDGFRB Anticorps) exon 11.
Our data validate CCDC88C as causing autosomal recessive, primary non-syndromic congenital hydrocephalus (Montrer FOXC1 Anticorps), suggesting this gene may be an important cause of congenital hydrocephalus (Montrer FOXC1 Anticorps).
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