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Data show that Drosophila CASK is associated with both pre and postsynaptic membranes, and that loss of presynaptic CASK leads to less evoked synaptic transmission, fewer spontaneous synaptic events, and reduced synaptic vesicle cycling.
Full-length CASK-beta appears to have a unique role within central circuits that control motor output
Camguk localizes to synaptic regions of the brain and associates in an ATP-regulated manner with CaMKII to catalyze formation of a pool of calcium-insensitive CaMKII.
The results of this study support the involvement of CAKI in neurotransmitter release and nervous system function.
the Drosophila homolog of CASK/Camguk can act as a gain controller on the transition to calcium-independence in vivo.
Dneurexin (DNRX) is important for locomotion through a genetic interaction with the scaffold protein, CAKI/CMG, the Drosophila homolog of vertebrate CASK.
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.
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.
The CASK as a novel regulator of Cav1.2 via a modulation of the voltage-gated calcium channel Cav1.2 open probability.
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
we provide a further characterization of genotype-phenotype correlations in CASK mutations and the presentation of nystagmus and the FGS4 phenotype.
During atrial dilation/remodeling, CASK expression was reduced but its localization remained unchanged.
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
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.
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.
The findings suggest that CASK and the truncated prestin splice isoform contribute to confinement of prestin to the basolateral region of the plasma membrane.
CASK regulates CaMKII autophosphorylation in a pathway required for memory formation.
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.
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.
CASK represents an intracellular gateway to regulate purinergic nociceptive signaling.
An early diagnosis and be useful for medical care of females with ID and MICPCH associated with CASK mutations.
CASK combines the scaffolding activity of MAGUKs with an unusual kinase activity that phosphorylates substrates recuited by the scaffolding activity.
case reports - mutations resulting in Ohtahara syndrome and cerebellar hypoplasia
During wounding, CASK is mobilized to the plasma membrane where it colocalizes with Cx43 and CADM1 1 hour after skin explant wounding.
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
Intragenic duplications and mutations of CASK is associated with mental retardation and microcephaly with pontine and cerebellar hypoplasia
CASK T740A mutation attenuated the interaction between CASK and TBR1 in the brain. However, CASK T740A mice were generally healthy, without obvious defects in brain morphology. The most dramatic defect among the mutant mice was in extinction of associative memory, though acquisition was normal.
CASK phosphorylates neurexin, modulating the interaction of liprin-alpha with the CASK-neurexin1beta-Mint1 complex.
Ths data of this study implies that some phenotypic components of CASK heterozygous deletion mutation associated disorders represent systemic manifestation of metabolic stress.
DLG1 and CASK play critical cooperative roles in maintaining the nephron progenitor population, potentially via a mechanism involving effects on FGF signaling
Immunofluorescence shows colocalization of Cx43 and CASK in brain astrocytes.
CASK negatively regulates PMCA4b by directly binding to it and JAM-A positively regulates it indirectly through CASK
Data show that CASK expression and the appropriate localization of DLG1 and LIN7c are not essential for either epithelial polarity or intestinal homeostasis in vivo.
Post-translational modifications to CASK are major regulatory steps leading to its proteasomal degradation.
CASK is transcribed in mouse testis and processing may play a role in the acquisition of spserm and sperm functions.
CASK and Dlg may act as a scaffold for organizing receptors and channels at the postsynaptic membrane of the neuromuscular junction.
We suggest that Tbr-1/CASK protein complex regulates expression of these downstream target genes and thus modulates neuronal activity and function.
analysis of structures of tetrameric L27 domain complexes formed by mLin-2/mLin-7 and Patj/Pals1 scaffold proteins
Data demonstrate that calmodulin-associated serine/threonine kinase (CASK) localizes to the nucleus in undifferentiated myoblasts, but is predominantly in the cytoplasm in differentiated myotubes of the C2C12 myogenic cell line.
In hippocampal CA1 and CA3 on both pre- and postsynaptic sites Neph1 colocalizes with the synaptic scaffolder CASK, and both Neph1 and Neph2 interact with the PDZ domain of CASK via their cytoplasmic tail.
Cask is required for mouse survival and performs a selectively essential function without being in itself required for core activities of neurons, such as membrane excitability, Ca2+-triggered presynaptic release, or postsynaptic receptor functions.
Cdk5 regulates the interaction between CASK and liprin-alpha
Truncated CASK does not alter skeletal muscle or protein interactors in mice.
This review discusses the first genetic model of CASK, a transgenic mouse line harboring a transgene encoding the Epstein-Barr virus latent membrane protein-1.
findings suggest that Cask plays an important role in all retinal synapses
This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.
, Calcium/calmodulin-dependent protein kinase
, Camguk/CASK adaptor protein
, calmodulin-dependent kinase
, Peripheral plasma membrane protein CASK
, peripheral plasma membrane protein CASK
, calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase
, protein lin-2 homolog
, trinucleotide repeat containing 8
, G-protein-coupled receptor GPR34