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Showing CCDC88C — DAPLE is a alias.

CCDC88C

Protein Daple · UniProt Q9P219

Length
2028 aa
Mass
228.2 kDa
Annotated
2026-06-09
35 papers in source corpus 22 papers cited in narrative 22 extracted findings
Cross-family judge vs UniProt: tie faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CCDC88C/DAPLE is a multi-domain cytoplasmic scaffold that couples Wnt/Frizzled signaling to heterotrimeric G protein activation through a Gα-binding and activating (GBA) motif that accelerates nucleotide exchange on Gαi while binding and inhibiting nucleotide exchange on Gαs and Gαq, the latter selectivity conferred by Met-1669 (PMID:26126266, PMID:31949046). By engaging Frizzled and Dishevelled, DAPLE drives non-canonical Wnt responses—suppressing β-catenin/TCF/LEF output while potentiating PI3K-Akt and Rac1 signaling, lamellipodia formation, and cell migration—and acts downstream of Wnt5a/Dvl to activate Rac and JNK (PMID:26126266, PMID:22643886, PMID:26577606). Its C-terminal PDZ-binding motif docks DAPLE at apical junctions through high-affinity interactions with the PDZ domains of DVL2, PARD3, and MPDZ, where it organizes epithelial polarity and apical actomyosin assembly: recruited by the PAR3-PAR6-aPKC complex, DAPLE both recruits the actin-stabilizing protein CD2AP and triggers GPCR-independent RhoA-myosin activation (PMID:31268831, PMID:32058970, PMID:35389423). DAPLE governs planar polarity and ciliary architecture, orienting ependymal cilia and positioning the primary cilium via apical microtubule organization (PMID:28746879, PMID:29229865, PMID:34642354). DAPLE activity is gated by post-translational regulation: tyrosine kinases including Src phosphorylate sites near the Dvl- and PARD3-binding motifs to dissociate these complexes and augment Gαi activation and EMT, Akt phosphorylates its phosphoinositide-binding domain to control endosomal trafficking of β-catenin/E-cadherin complexes, and protein levels are set by GALNT6-mediated O-GalNAc glycosylation and by TRIM11-driven selective autophagic degradation (PMID:29487190, PMID:29021338, PMID:32382014, PMID:38971758). Human loss-of-function and C-terminal truncating mutations in CCDC88C cause autosomal recessive congenital hydrocephalus, and a p.R464H missense mutation that activates JNK and apoptosis is linked to cerebellar neurodegeneration (PMID:23042809, PMID:25062847). Distinct from the full-length signaling protein, the CCDC88C coiled-coil oligomerization domain forms constitutively active oncogenic kinase fusions with PDGFRβ and FLT3 that transform hematopoietic cells (PMID:15496975, PMID:41256517).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2005 Medium

    Before its signaling role was known, CCDC88C was identified as a fusion partner whose coiled-coil domain could constitutively activate a kinase, establishing the first disease link via an oncogenic translocation.

    Evidence Inverse PCR cloning and sequencing of a t(5;14) KIAA1509-PDGFRβ fusion with imatinib clinical response

    PMID:15496975

    Open questions at the time
    • Did not address the normal cellular function of full-length CCDC88C
    • Mechanism of oligomerization-driven kinase activation not structurally resolved
  2. 2010 Low

    A human splice-site mutation causing DAPLE protein loss first implicated the gene in restraining canonical Wnt output, raising elevated β-catenin and LEF1 transcripts.

    Evidence Positional cloning, Western blot of protein loss, and qRT-PCR of Wnt pathway genes in a single family

    PMID:21031079

    Open questions at the time
    • Single family with mRNA correlation only, no pathway manipulation or rescue
    • Direct biochemical link to β-catenin regulation not established
  3. 2012 High

    Linking DAPLE to Dishevelled established it as a non-canonical Wnt effector driving Rac activation and migration, and C-terminal truncating mutations defined the PDZ-binding motif as essential for brain development.

    Evidence Reciprocal Co-IP, Rac assays, in vivo wound-healing knockout (signaling); homozygosity mapping and exome sequencing in hydrocephalus families (disease)

    PMID:22643886 PMID:23042809

    Open questions at the time
    • Genetic disease evidence lacked direct functional assay of mutant protein
    • How Dvl association is coupled to Rac GEF machinery not fully resolved
  4. 2014 Medium

    A missense mutation showed DAPLE can engage stress signaling, connecting it to JNK activation and apoptosis in cerebellar neurodegeneration.

    Evidence Whole-exome sequencing plus cell-based JNK, caspase-3 cleavage, and apoptosis assays of mutant CCDC88C

    PMID:25062847

    Open questions at the time
    • Single-lab cell-based readouts
    • Molecular mechanism linking R464H to JNK activation not defined
  5. 2015 High

    Defining the GBA motif resolved how DAPLE transduces Wnt to G proteins, showing it directly activates Gαi and binds Frizzled to suppress β-catenin while enhancing PI3K-Akt/Rac1 and invasiveness; gastric cancer work positioned it downstream of Wnt5a/Dvl for Rac/JNK.

    Evidence In vitro GEF assays, direct binding, GBA mutagenesis, signaling and invasion models; siRNA knockdown with Rac/JNK readouts and xenograft metastasis

    PMID:26126266 PMID:26577606

    Open questions at the time
    • Structural basis of Frizzled-DAPLE binding not resolved
    • How GBA Gαi activation is spatially coordinated with receptor engagement unclear
  6. 2017 Medium

    In vivo and trafficking studies established DAPLE's roles in planar polarity of motile cilia and in Akt-regulated endosomal trafficking of β-catenin/E-cadherin.

    Evidence Daple knockout mouse cilia orientation and CSF flow analysis; phosphorylation, endosomal fractionation, and PI-binding/Akt-site mutagenesis; hair-cell PCP genetics

    PMID:28746879 PMID:29021338 PMID:29229865

    Open questions at the time
    • Akt-trafficking mechanism shown in single lab
    • Link between cilia polarity defects and Wnt/G-protein signaling not mechanistically closed
  7. 2018 High

    Phosphoproteomics established that tyrosine kinases regulate DAPLE by phosphorylating sites near the Dvl-binding motif, dissociating the Dvl complex and augmenting Gαi activation and EMT.

    Evidence Mass spectrometry, in vitro kinase assays, Co-IP, Gαi activation assays, EMT assays

    PMID:29487190

    Open questions at the time
    • Which kinases dominate in specific tissue contexts unclear
    • Quantitative relationship between phosphorylation and GEF output not defined
  8. 2019 High

    Domain-resolved binding studies and isoform analysis clarified that DAPLE docks at apical junctions through its PBM-MPDZ interaction for apical constriction, and that GBA-dependent tumor suppression is shared by isoforms while only full-length drives invasion.

    Evidence PDZ pulldowns, Co-IP, Xenopus morpholino constriction assays; isoform cloning with GBA mutagenesis and invasion assays

    PMID:31268831 PMID:31431650

    Open questions at the time
    • Isoform-specific structural difference driving invasion not mapped
    • Single-lab Xenopus constriction data
  9. 2020 Medium

    A cluster of studies refined the GBA's pan-Gα selectivity, the junctional PARD3 docking and its tyrosine-phosphorylation control, the CK1ε-Dvl2 phosphorylation route to β-catenin, and TRIM11-mediated autophagic turnover.

    Evidence In vitro nucleotide exchange with M1669 mutagenesis; PDZ pulldowns and Src phosphorylation; trimeric Co-IP with Dvl2/CK1ε and reporter assays; ubiquitination and selective autophagy assays

    PMID:31949046 PMID:32058970 PMID:32382014 PMID:32888647

    Open questions at the time
    • Several mechanisms from single labs without reciprocal validation
    • How opposing Gαi vs Gαs/Gαq effects integrate in cells unresolved
  10. 2022 High

    The apical actomyosin work integrated DAPLE into the PAR polarity complex, showing it is recruited by PAR3-PAR6-aPKC and assembles actomyosin via CD2AP recruitment and GPCR-independent RhoA activation.

    Evidence Reciprocal Co-IP, immunofluorescence, knockdown/overexpression, Rho activation and actomyosin assembly assays

    PMID:35389423

    Open questions at the time
    • In vivo relevance of CD2AP recruitment not tested
    • Coupling between PAR recruitment and which Gα is activated locally unclear
  11. 2024 Medium

    Glycosylation control and a metastasis transcriptional axis were defined, showing GALNT6-mediated O-GalNAc glycosylation stabilizes DAPLE to support c-JUN-driven CEMIP expression and breast cancer metastasis.

    Evidence Co-IP, O-glycosylation assays, GALNT6 and CCDC88C gain/loss-of-function, c-JUN reporter, in vivo metastasis model

    PMID:38971758

    Open questions at the time
    • Glycosylation sites on DAPLE not mapped
    • Single-lab in vivo metastasis evidence
  12. 2025 Medium

    Structural/biophysical and fusion-oncoprotein studies clarified that DAPLE's extended PBM binds DVL2 PDZ with exceptionally high affinity to mediate Wnt5a-induced primary cilia disassembly, and that its coiled-coil supports localization and maximal activation of CCDC88C-FLT3 fusions.

    Evidence Proximity labeling with structural/biophysical binding and cilia assays; cell-based FLT3 fusion kinase, STAT5/AKT/MAPK, and localization assays (both preprints)

    PMID:41256517

    Open questions at the time
    • Both findings are preprints from single labs
    • Atomic-resolution structure of the DAPLE-DVL2 PDZ complex not finalized in peer-reviewed form

Open questions

Synthesis pass · forward-looking unresolved questions
  • How DAPLE's opposing actions on different Gα subunits, its multiple PDZ docking partners, and its many post-translational regulators are integrated into context-specific outputs in vivo remains unresolved.
  • No unified model reconciling Gαi activation vs Gαs/Gαq inhibition in a physiological context
  • Tissue-specific deployment of canonical vs non-canonical Wnt outputs not mapped
  • Full-length structural organization of the scaffold unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0098772 molecular function regulator activity 3 GO:0060089 molecular transducer activity 2 GO:0008289 lipid binding 1
Localization
GO:0005886 plasma membrane 3 GO:0005929 cilium 3 GO:0005829 cytosol 2 GO:0005856 cytoskeleton 2 GO:0005768 endosome 1 GO:0005815 microtubule organizing center 1
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-162582 Signal Transduction 3 R-HSA-1643685 Disease 2
Partners
CD2APCK1ΕDVL2GALNT6GNAIMPDZPARD3TRIM11
Complex memberships
DAPLE-Dvl2-CK1ε trimeric complexPAR3-PAR6-aPKC (PAR polarity) complex

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2015 DAPLE contains a Gα-binding and activating (GBA) motif that directly activates Gαi proteins, and an adjacent domain that directly binds Frizzled receptors (FZDRs), thereby linking Wnt stimulation to G protein activation. This triggers non-canonical Wnt responses: suppression of the β-catenin/TCF/LEF pathway and tumorigenesis, but enhancement of PI3K-Akt and Rac1 signals and tumor cell invasiveness. Biochemical binding assays, GEF activity assays, cell-based signaling assays, mutagenesis, tumor invasion models eLife High 26126266
2012 DAPLE interacts directly with Dishevelled (Dvl) and regulates Wnt5a-mediated activation of Rac and formation of lamellipodia. DAPLE increases the association of Dvl with an isoform of atypical protein kinase C (aPKC/PKCλ), promoting Rac activation, and is required for fibroblast and epithelial cell migration during wound healing in vivo. Co-immunoprecipitation, lamellipodia formation assays, Rac activation assays, siRNA knockdown, in vivo wound healing model in mice Nature communications High 22643886
2017 DAPLE-deficient mice develop hydrocephalus with ependymal cilia lacking coordinated orientation. DAPLE regulates microtubule dynamics at the anterior side of ependymal cells, orienting cilial basal bodies required for directional cerebrospinal fluid (CSF) flow, establishing a role for DAPLE in planar polarity of motile cilia. Daple-deficient (knockout) mouse model, cilia orientation analysis, microtubule dynamics imaging, CSF flow assay Cell reports High 28746879
2014 A missense mutation in CCDC88C (p.R464H) activates the c-Jun N-terminal kinase (JNK) pathway, induces caspase-3 cleavage, and triggers apoptosis, linking DAPLE to JNK stress signaling and cerebellar neurodegeneration. Whole-exome sequencing, expression of mutant CCDC88C in cells, JNK pathway activation assay, caspase-3 cleavage assay, apoptosis assay Journal of medical genetics Medium 25062847
2018 DAPLE is a substrate of multiple receptor tyrosine kinases (RTKs) and non-RTKs. Phosphorylation near the Dvl-binding motif causes DAPLE/Dvl complex dissociation and augments DAPLE's ability to bind to and activate Gαi, potentiating β-catenin-independent Wnt signals and stimulating epithelial-mesenchymal transition (EMT). Phosphoproteomics (mass spectrometry), Co-immunoprecipitation, in vitro kinase assay, Gαi activation assay, EMT assay Science signaling High 29487190
2019 DAPLE directly binds the PDZ3 domain of MPDZ via its PDZ-binding motif (PBM) and colocalizes with MPDZ at apical cell junctions. MPDZ depletion blunts DAPLE-mediated apical constriction of cultured cells. Both proteins are required for apical constriction of neuroepithelial cells and neural plate bending during Xenopus neurulation. Co-immunoprecipitation, direct binding assay (PDZ domain pulldown), colocalization imaging, Xenopus morpholino knockdown, cell constriction assay Molecular biology of the cell High 31268831
2017 DAPLE interacts with both PCP (planar cell polarity) and cell-intrinsic G-protein-based signals in inner-ear hair cells. DAPLE is required to maintain the polarized distribution of the core PCP protein Dishevelled and to position the primary cilium at the abneural edge of the apical surface, integrating organ-wide and cell-intrinsic polarity. Mouse knockout/mutant analysis, immunofluorescence localization of PCP proteins, cilium positioning assay Proceedings of the National Academy of Sciences of the United States of America Medium 29229865
2017 Akt phosphorylates the phosphoinositide (PI)-binding domain of DAPLE, abolishing DAPLE's ability to bind PI3-P-enriched endosomes and engage dynein motor complex for trafficking of β-catenin/E-cadherin complexes to pericentriolar recycling endosomes (PCREs). Phosphorylation compartmentalizes DAPLE/β-catenin/E-cadherin complexes to cell-cell contact sites, enhancing non-canonical Wnt signals and suppressing colony growth. Phosphorylation assay, endosomal fractionation, Co-immunoprecipitation, colony growth assay, mutagenesis of PI-binding domain and Akt phosphorylation site Molecular biology of the cell Medium 29021338
2020 DAPLE's GBA motif binds efficiently to Gαs and Gαq (in addition to Gαi) and inhibits nucleotide exchange on Gαs and Gαq, in contrast to the nucleotide-exchange acceleration it causes for Gαi. Met-1669 in the GBA motif was identified as the residue that enables better binding to Gαs and Gαq. In vitro nucleotide exchange assay, binding assay, site-directed mutagenesis (M1669 substitution) The Journal of biological chemistry High 31949046
2020 TRIM11 associates with DAPLE and promotes its ubiquitin-mediated degradation via a p62-selective autophagic pathway, thereby upregulating β-catenin and inducing ABCC9 expression in nasopharyngeal carcinoma drug-resistant cells. Co-immunoprecipitation, ubiquitination assay, selective autophagy assay, β-catenin reporter assay Oncogenesis Medium 32382014
2020 DAPLE forms a trimeric complex with Dvl2 and CK1ε. Daple overexpression induces CK1ε-mediated phosphorylation of Dvl2 at Thr224, which is required for full activation of β-catenin transcriptional activity. A Daple mutant lacking the C-terminal GCV motif (Dvl-binding) retains CK1ε interaction but fails to induce Dvl phosphorylation. Wnt3a stimulation increases membrane localization of DAPLE and its association with Dvl. Co-immunoprecipitation, site-directed mutagenesis (ΔGCV, Dvl2-T224A), β-catenin reporter assay, membrane fractionation Biochemical and biophysical research communications Medium 32888647
2020 DAPLE localizes to epithelial cell junctions via its PDZ-binding motif (PBM) binding the third PDZ domain of PARD3. Tyrosine phosphorylation of DAPLE's PBM by receptor and non-receptor tyrosine kinases (including Src) regulates the interaction: hypophosphorylation strengthens DAPLE–PARD3 interaction, while hyperphosphorylation disrupts it, controlling contact-triggered planar polarity. Co-immunoprecipitation, direct binding assay (PDZ domain pulldown), tyrosine kinase assay (Src), immunofluorescence localization, phosphomimetic/phosphonull mutagenesis iScience Medium 32058970
2022 The PAR polarity complex (PAR3-PAR6-aPKC) at apical cell junctions recruits DAPLE, which in turn triggers a two-pronged mechanism for assembly of the apical actomyosin network: (1) direct recruitment of the actin-stabilizing protein CD2AP to apical junctions, and (2) GPCR-independent activation of heterotrimeric G protein signaling to favor RhoA-myosin activation. Co-immunoprecipitation, immunofluorescence, DAPLE knockdown/overexpression, Rho activation assay, actomyosin assembly assay The Journal of cell biology High 35389423
2024 DAPLE (CCDC88C) is a substrate of GALNT6, which promotes O-linked GalNAc glycosylation of DAPLE, maintaining its protein stability. This O-GalNAc modification is required for DAPLE's pro-metastatic function. DAPLE promotes breast cancer metastasis via c-JUN-mediated transcriptional activation of CEMIP. Co-immunoprecipitation, O-glycosylation assay, GALNT6 knockdown/overexpression, CCDC88C gain/loss-of-function, c-JUN reporter assay, in vivo metastasis model Cancer cell international Medium 38971758
2015 DAPLE depletion suppresses Wnt5a-induced Rac and JNK activation, laminin γ2 expression, and cell migration/invasion in gastric cancer cells. Daple depletion also suppressed liver metastasis in a mouse xenograft model, positioning DAPLE downstream of Wnt5a/Dvl to activate Rac and JNK in gastric cancer. siRNA knockdown, Rac activation assay, JNK phosphorylation assay, laminin γ2 expression assay, Transwell migration/invasion assay, mouse xenograft metastasis model Cancer science Medium 26577606
2005 CCDC88C (KIAA1509) contains a coiled-coil oligomerization domain with homology to the HOOK family of proteins. The KIAA1509-PDGFRβ fusion protein resulting from t(5;14)(q33;q32) retains the KIAA1509 coiled-coil domain fused to the cytoplasmic kinase domain of PDGFRβ, producing a constitutively active tyrosine kinase that transforms hematopoietic cells. Inverse PCR cloning, sequencing, imatinib treatment (clinical response), domain analysis Leukemia Medium 15496975
2025 The CCDC88C-FLT3 (Daple-FLT3) fusion oncoprotein contains a constitutively active FLT3 kinase domain that activates STAT5a, AKT, and MAPK signaling without ligand stimulation. The coiled-coil domain of DAPLE is dispensable for kinase activation but necessary for maximal activation and pericentrosomal localization of the fusion protein. Sorafenib (and to a lesser degree imatinib) can modulate this signaling. Cell-based kinase activity assay, STAT5/AKT/MAPK phosphorylation assay, subcellular localization imaging, coiled-coil domain deletion mutagenesis, TKI treatment bioRxivpreprint Medium 41256517
2025 DAPLE and its paralog Girdin-L bear unique extended C-terminal PDZ-binding motifs that bind to the PDZ domain of DVL2 with exceptionally high affinity, as revealed by proximity labeling combined with structural and biophysical analysis. Deletion of these motifs or the DVL2 PDZ domain results in elongated primary cilia and renders cilia unresponsive to Wnt5a-stimulated disassembly, establishing that the DVL2 PDZ–DAPLE interaction mediates primary cilia disassembly in response to Wnt5a. Proximity labeling (BioID), structural analysis, biophysical binding assay, PDZ motif deletion mutagenesis, primary cilia length measurement, Wnt5a stimulation assay in HEK293T cells bioRxivpreprint Medium bio_10.1101_2025.09.26.678488
2019 Two isoforms of DAPLE/CCDC88C both suppress tumor growth via their GBA motif, but only the full-length isoform triggers EMT and invasion. Both isoforms are suppressed during colon cancer progression, and their reduced expression carries additive prognostic significance. Isoform cloning, GBA motif mutagenesis, colony formation assay, invasion assay Scientific reports Medium 31431650
2021 Adult Daple-knockout mice exhibit hearing disturbances across a broad frequency range. In these mice, apical microtubules in cochlear hair cells are irregularly aggregated and the number of microtubules attached to plasma membranes is decreased, causing distorted hair bundle arrangement. Nocodazole treatment in wild-type cochlea culture phenocopied these microtubule defects, establishing DAPLE's role in apical microtubule organization and hair bundle patterning. Daple knockout mouse audiometry (auditory brainstem response), immunofluorescence of hair bundles, electron/confocal microscopy of apical microtubules, nocodazole pharmacological experiment Scientific reports Medium 34642354
2010 A homozygous splice-site mutation in CCDC88C (intron 29) causes loss of DAPLE protein. In blood from the affected patient, CTNNB1 (β-catenin) and LEF1 mRNA levels were increased compared to controls, consistent with loss of DAPLE's inhibitory role on canonical Wnt/β-catenin signaling. Western blotting (protein loss), quantitative RT-PCR of Wnt pathway genes, positional cloning Molecular syndromology Low 21031079
2012 Mutations truncating the extreme C-terminus of DAPLE, including the GCV PDZ-binding motif, cause autosomal recessive congenital hydrocephalus, indicating that the PDZ domain-binding motif (which mediates Dishevelled binding) is functionally essential for DAPLE's role in brain development. Homozygosity mapping, whole exome sequencing, protein domain analysis of truncating mutations Journal of medical genetics Low 23042809

Source papers

Stage 0 corpus · 35 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2015 Daple is a novel non-receptor GEF required for trimeric G protein activation in Wnt signaling. eLife 100 26126266
2010 Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. Molecular syndromology 75 21031079
2020 TRIM11 facilitates chemoresistance in nasopharyngeal carcinoma by activating the β-catenin/ABCC9 axis via p62-selective autophagic degradation of Daple. Oncogenesis 74 32382014
2012 The Dishevelled-associating protein Daple controls the non-canonical Wnt/Rac pathway and cell motility. Nature communications 66 22643886
2012 Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. Journal of medical genetics 62 23042809
2017 Daple Coordinates Planar Polarized Microtubule Dynamics in Ependymal Cells and Contributes to Hydrocephalus. Cell reports 60 28746879
2014 A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. Journal of medical genetics 54 25062847
2005 KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32). Leukemia 46 15496975
2017 Daple coordinates organ-wide and cell-intrinsic polarity to pattern inner-ear hair bundles. Proceedings of the National Academy of Sciences of the United States of America 35 29229865
2015 Role for Daple in non-canonical Wnt signaling during gastric cancer invasion and metastasis. Cancer science 34 26577606
2018 Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. American journal of medical genetics. Part A 31 29341397
2005 Novel Daple-like protein positively regulates both the Wnt/beta-catenin pathway and the Wnt/JNK pathway in Xenopus. Mechanisms of development 24 16026968
2018 Convergence of Wnt, growth factor, and heterotrimeric G protein signals on the guanine nucleotide exchange factor Daple. Science signaling 23 29487190
2021 Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants. Acta neuropathologica communications 21 34092257
2019 DAPLE and MPDZ bind to each other and cooperate to promote apical cell constriction. Molecular biology of the cell 21 31268831
2014 Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms. Genes, chromosomes & cancer 20 24772479
2020 DAPLE protein inhibits nucleotide exchange on Gαs and Gαq via the same motif that activates Gαi. The Journal of biological chemistry 14 31949046
2017 A Daple-Akt feed-forward loop enhances noncanonical Wnt signals by compartmentalizing β-catenin. Molecular biology of the cell 14 29021338
2021 A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. BMC neurology 12 33602173
2020 The Daple-CK1ε complex regulates Dvl2 phosphorylation and canonical Wnt signaling. Biochemical and biophysical research communications 12 32888647
2017 Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. European journal of medical genetics 11 29225145
2019 Two Isoforms of the Guanine Nucleotide Exchange Factor, Daple/CCDC88C Cooperate as Tumor Suppressors. Scientific reports 10 31431650
2019 Sustained Response to Imatinib in a Pediatric Patient with Concurrent Myeloproliferative Disease and Lymphoblastic Lymphoma Associated with a CCDC88C-PDGFRB Fusion Gene. Acta haematologica 9 30726835
2022 DAPLE orchestrates apical actomyosin assembly from junctional polarity complexes. The Journal of cell biology 8 35389423
2020 Tyrosine-Based Signals Regulate the Assembly of Daple⋅PARD3 Complex at Cell-Cell Junctions. iScience 8 32058970
2021 Daple deficiency causes hearing loss in adult mice by inducing defects in cochlear stereocilia and apical microtubules. Scientific reports 6 34642354
2024 CCDC88C, an O-GalNAc glycosylation substrate of GALNT6, drives breast cancer metastasis by promoting c-JUN-mediated CEMIP transcription. Cancer cell international 5 38971758
2020 Beneficial tyrosine kinase inhibitor therapy in a patient with relapsed BCR-ABL1-like acute lymphoblastic leukemia with CCDC88C-PDGFRB fusion. International journal of hematology 5 32951102
2007 Extramedullary molecular evidence of the 5'KIAA1509/3'PDGFRB fusion gene in chronic eosinophilic leukemia. Leukemia research 5 17681599
2023 Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene. International journal of molecular sciences 4 36768938
2023 Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia. Frontiers in pediatrics 3 36704135
2010 A case of myeloid neoplasm associated with eosinophilia and KIAA1509-PDGFRβ responsive to combination treatment with imatinib mesylate and prednisolone. Journal of clinical pharmacy and therapeutics 1 21054467
2025 Daple-FLT3 (CCDC88C-FLT3) gene fusion requires the coiled-coil domain for maximal activation and pericentrosomal localization. bioRxiv : the preprint server for biology 0 41256517
2024 CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation. Clinical genetics 0 38173219
2023 A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia. Human heredity 0 37899026

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