CASK Antibody

1. Data suggest that children with heterozygous mutation in the gene CASK kinase (CASK) and mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) are responsive to intensive therapy aimed at increasing functional skills/independence. PMID:29258560
2. Authors have identified mutations in PAK3, CASK, and MECP2 that likely contribute to intellectual disability, and the findings extend the spectrum of mutations and phenotypes associated with X-linked intellectual disability. PMID:28481730
3. The CASK as a novel regulator of Cav1.2 via a modulation of the voltage-gated calcium channel Cav1.2 open probability. PMID:27720444
4. findings demonstrate that microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a genetically heterogeneous condition, in which CASK inactivating mutations appear to account for the majority of MICPCH cases and with severer phenotypes, while the non-CASK mutation cases tend to have milder microcephaly PMID:28783747
5. we provide a further characterization of genotype-phenotype correlations in CASK mutations and the presentation of nystagmus and the FGS4 phenotype. PMID:28139025
6. During atrial dilation/remodeling, CASK expression was reduced but its localization remained unchanged. PMID:27364017
7. we report a patient presenting with a complex phenotype consisting of severe, adult-onset, dilated cardiomyopathy, hearing loss and developmental delay, in which exome sequencing revealed two genetic variants that are inherited from a healthy mother: a novel missense variant in the CASK gene, mutations in which cause a spectrum of neurocognitive manifestations PMID:27173948
8. In clinical specimens, CASK was over-expressed in tumors and H. pylori positive tissues, and its mRNA levels were inversely correlated with miR-203 expression. PMID:25373785
9. Data indicate that patients with low calcium/calmodulin-dependent serine protein kinase (CASK) staining had a significantly better survival compared to patients with high CASK staining. PMID:24927672
10. The findings suggest that CASK and the truncated prestin splice isoform contribute to confinement of prestin to the basolateral region of the plasma membrane. PMID:23542924
11. CASK regulates CaMKII autophosphorylation in a pathway required for memory formation. PMID:23543616
12. a model whereby CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus. PMID:23406872
13. our findings suggest a molecular mechanism by which CASK binding regulates SAP97 conformation and its subsequent sorting and synaptic targeting of AMPARs and NMDARs during trafficking to synapses. PMID:23864692
14. CASK represents an intracellular gateway to regulate purinergic nociceptive signaling. PMID:23600800
15. An early diagnosis and be useful for medical care of females with ID and MICPCH associated with CASK mutations. PMID:23165780
16. CASK combines the scaffolding activity of MAGUKs with an unusual kinase activity that phosphorylates substrates recuited by the scaffolding activity. PMID:18423203
17. case reports - mutations resulting in Ohtahara syndrome and cerebellar hypoplasia PMID:22709267
18. During wounding, CASK is mobilized to the plasma membrane where it colocalizes with Cx43 and CADM1 1 hour after skin explant wounding. PMID:22389404
19. CASK related PCH is the second most frequent cause of PCH. The identification of a de novo mutation in these patients enables accurate and reassuring genetic counselling PMID:22452838
20. Intragenic duplications and mutations of CASK is associated with mental retardation and microcephaly with pontine and cerebellar hypoplasia PMID:21735175
21. Heterozygous mutations in the CASK gene are described in 20 female patients that are associated with distinct brain malformations and phenotypes of remarkably varying degrees. PMID:21954287
22. The liprin-alpha2/CASK complex structure is solved here. PMID:21855798
23. Study shows that a short linear EEIWVLRK peptide motif from Caskin1 is necessary and sufficient for binding CASK. PMID:21763699
24. CASK plays a role in axonogenesis, which may be related to brain anatomical characteristics in humans PMID:20623620
25. These findings reinforce the CASK gene as a relatively frequent cause of X-linked mental retardation in females and males. PMID:20029458
26. syndecan's interactions with both CASK and neurofibromin are dependent on syndecan homodimerization. PMID:20006588
27. Post-translational modifications to CASK are major regulatory steps leading to its proteasomal degradation. PMID:19781660
28. Upregulation of CASK protein is associated with tumorigenesis of esophagus PMID:11880184
29. coordinated folding and association of the LIN-2, -7 domain PMID:12110687
30. plasma membrane Ca2+ pump 4b/CI binds to Ca2+/calmodulin-dependent membrane-associated kinase CASK PMID:12511555
31. Thus, we speculate that the regulation of cell growth mediated by CASK may be involved in Id1. PMID:15694377
32. Genetic deletion of CASK results in haploinsufficiency, which might cause X-linked dominant mental retardation. PMID:18629876
33. CASK is targeted to nuclei of the basal epidermis and controls keratinocyte proliferation. PMID:18664494
34. hCASK regulation of cell growth might involve p21 expression, and that the bHLH (basic helix-loop-helix) transcription factor E2A probably participates in hCASK regulation of p21 expression PMID:19125693
35. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK PMID:19165920
36. study reports that a p.R28L (c.83G-->T) missense mutation in CASK causes FG syndrome phenotype in an Italian family PMID:19200522
37. The molecular functions of CASK may explain, at least partially in this review, the malformations of the brain and the mental retardation in human patients carrying mutations in the CASK gene. PMID:19847910

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HGNC: 1497

UNIGENE: Hs.495984

KEGG: hsa:8573

STRING: 9606.ENSP00000367408

OMIM: 300172