| Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein. | Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
Patel PA, LaConte LEW, Liang C, Cecere T, Rajan D, Srivastava S, Mukherjee K., | 07/25/2024 |
| Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein. | Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
Mori T, Zhou M, Tabuchi K., Free PMC Article | 08/30/2023 |
| Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating alpha-synuclein in Parkinson's disease. | Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating α-synuclein in Parkinson's disease.
Zhang Q, Huang Y, Wu A, Duan Q, He P, Huang H, Gao Y, Nie K, Liu Q, Wang L. | 03/21/2023 |
| Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders. | Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
Yang K, Lin L, Yuan F, Li X, Liu Z, Lan X, Wang Y, Ren Y, Li J, Chen Y., Free PMC Article | 11/19/2022 |
| Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. | Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
Dubbs H, Ortiz-Gonzalez X, Marsh ED. | 10/22/2022 |
| Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families. | Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
Khan NM, Masoud MS, Baig SM, Qasim M, Chang J., Free PMC Article | 04/16/2022 |
| Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females. | Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.
Zhao J, Hou M, Wang H, Liu Q, Sun D, Wei W. | 01/8/2022 |
| Functional analysis of CASK transcript variants expressed in human brain. | Functional analysis of CASK transcript variants expressed in human brain.
Tibbe D, Pan YE, Reißner C, Harms FL, Kreienkamp HJ., Free PMC Article | 11/22/2021 |
| Exploration of the Hsa-miR-1587-Protein Interaction and the Inhibition to CASK. | Exploration of the Hsa-miR-1587-Protein Interaction and the Inhibition to CASK.
Zhang L, Zhou J, Xu M, Yuan G., Free PMC Article | 10/30/2021 |
| CASK related disorder: Epilepsy and developmental outcome. | CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. | 06/19/2021 |
| Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization. | Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
Pan YE, Tibbe D, Harms FL, Reißner C, Becker K, Dingmann B, Mirzaa G, Kattentidt-Mouravieva AA, Shoukier M, Aggarwal S, Missler M, Kutsche K, Kreienkamp HJ. | 06/19/2021 |
| CASK regulates Notch pathway and functions as a tumor promoter in pancreatic cancer. | CASK regulates Notch pathway and functions as a tumor promoter in pancreatic cancer.
Qu J, Zhou Y, Li Y, Yu J, Wang W. | 04/24/2021 |
| CASK, the Soluble Glomerular Permeability Factor, Is Secreted by Macrophages in Patients With Recurrent Focal and Segmental Glomerulo-Sclerosis. | CASK, the Soluble Glomerular Permeability Factor, Is Secreted by Macrophages in Patients With Recurrent Focal and Segmental Glomerulo-Sclerosis.
Zhang X, Herr F, Vernochet A, Lorenzo HK, Beaudreuil S, Dürrbach A., Free PMC Article | 04/13/2021 |
| Colorectal cancer patients with CASK promotor heterogeneous and homogeneous methylation display different prognosis. | Colorectal cancer patients with CASK promotor heterogeneous and homogeneous methylation display different prognosis.
Liu Y, Huang H, Fu J, Zhang Y, Xu J, Zhang L, Sun S, Zhao L, Zhang D, Onwuka JU, Sun H, Cui B, Zhao Y., Free PMC Article | 04/3/2021 |
| CASK can induce the recurrence of Focal and Segmental GlomeruloSclerosis after renal transplantation. | Circulating CASK is associated with recurrent focal segmental glomerulosclerosis after transplantation.
Beaudreuil S, Zhang X, Herr F, Harper F, Candelier JJ, Fan Y, Yeter H, Dudreuilh C, Lecru L, Vazquez A, Charpentier B, Lorenzo HK, Durrbach A., Free PMC Article | 02/29/2020 |
| Our data suggest that the CASK interactions mediated by the CaMK domain may play a crucial role in retinal function, and thus, in addition to optic nerve hypoplasia , individuals with mutations in the CASK gene may exhibit other retinal disorders, depending on the nature of mutation. | An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.
LaConte LEW, Chavan V, DeLuca S, Rubin K, Malc J, Berry S, Gail Summers C, Mukherjee K., Free PMC Article | 02/15/2020 |
| we utilized in vivo complementation studies to demonstrate that the three point mutations confer a loss-of-function effect. This work endorses zebrafish as a tractable model to rapidly assess the effect of novel CASK variants on brain development. | Novel CASK mutations in cases with syndromic microcephaly.
Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR., Free PMC Article | 06/15/2019 |
| Our results suggest that disruption of the CASK-neurexin interaction, not the CASK-Tbr-1 interaction, produces microcephaly and cerebellar hypoplasia. | Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
LaConte LEW, Chavan V, Elias AF, Hudson C, Schwanke C, Styren K, Shoof J, Kok F, Srivastava S, Mukherjee K., Free PMC Article | 04/6/2019 |
| 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. | A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation.
DeLuca SC, Wallace DA, Trucks MR, Mukherjee K., Free PMC Article | 08/11/2018 |
| 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. | Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
Muthusamy B, Selvan LDN, Nguyen TT, Manoj J, Stawiski EW, Jaiswal BS, Wang W, Raja R, Ramprasad VL, Gupta R, Murugan S, Kadandale JS, Prasad TSK, Reddy K, Peterson A, Pandey A, Seshagiri S, Girimaji SC, Gowda H., Free PMC Article | 02/24/2018 |
| The CASK as a novel regulator of Cav1.2 via a modulation of the voltage-gated calcium channel Cav1.2 open probability. | Calcium/calmodulin-dependent serine protein kinase CASK modulates the L-type calcium current.
Nafzger S, Rougier JS. | 11/4/2017 |
| 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 | Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S, Uehara DT, Tanimoto K, Mizuno S, Chinen Y, Fukumura S, Takanashi JI, Osaka H, Okamoto N, Inazawa J., Free PMC Article | 11/4/2017 |
| we provide a further characterization of genotype-phenotype correlations in CASK mutations and the presentation of nystagmus and the FGS4 phenotype. | A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. | 10/21/2017 |
| During atrial dilation/remodeling, CASK expression was reduced but its localization remained unchanged. | Lateral Membrane-Specific MAGUK CASK Down-Regulates NaV1.5 Channel in Cardiac Myocytes.
Eichel CA, Beuriot A, Chevalier MY, Rougier JS, Louault F, Dilanian G, Amour J, Coulombe A, Abriel H, Hatem SN, Balse E. | 05/7/2017 |
| 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 | Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.
Reinstein E, Tzur S, Bormans C, Behar DM., Free PMC Article | 03/18/2017 |