Cargando…

Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein

CASK-related disorders are a form of rare X-linked neurological diseases and most of the patients are females. They are characterized by several symptoms, including microcephaly with pontine and cerebellar hypoplasia (MICPCH), epilepsy, congenital nystagmus, and neurodevelopmental disorders. Whole-g...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mori, Takuma, Zhou, Mengyun, Tabuchi, Katsuhiko
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454856/ https://www.ncbi.nlm.nih.gov/pubmed/37628707 http://dx.doi.org/10.3390/genes14081656

Ejemplares similares

Phenotypic and molecular insights into CASK-related disorders in males
por: Moog, Ute, et al.
Publicado: (2015)

Presynaptic dysfunction in CASK-related neurodevelopmental disorders
por: Becker, Martin, et al.
Publicado: (2020)

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome
por: Guo, Qi, et al.
Publicado: (2023)

CASK and CaMKII function in Drosophila memory
por: Malik, Bilal R., et al.
Publicado: (2014)

Discordant phenotype caused by CASK mutation in siblings with NF1
por: Murakami, Hiroaki, et al.
Publicado: (2019)

SUMOylation of the MAGUK protein CASK regulates dendritic spinogenesis
por: Chao, Hsu-Wen, et al.
Publicado: (2008)

Functional analysis of CASK transcript variants expressed in human brain
por: Tibbe, Debora, et al.
Publicado: (2021)

Exploration of the Hsa-miR-1587–Protein Interaction and the Inhibition to CASK
por: Zhang, Lulu, et al.
Publicado: (2021)

Growth of Plasmonic Nanoparticles for Aging Cask-Matured Whisky
por: Gracie, Jennifer, et al.
Publicado: (2022)

Alternative Splicing of a Novel Inducible Exon Diversifies the CASK Guanylate Kinase Domain
por: Dembowski, Jill A., et al.
Publicado: (2012)

Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia
por: Kerr, Alicia, et al.
Publicado: (2019)

CNTNAP2 stabilizes interneuron dendritic arbors through CASK
por: Gao, Ruoqi, et al.
Publicado: (2018)

Neuron-specific protein interactions of Drosophila CASK-β are revealed by mass spectrometry
por: Mukherjee, Konark, et al.
Publicado: (2014)

Calcium/Calmodulin-Dependent Serine Protein Kinase (CASK) Gene Polymorphisms in Pigeons
por: Dybus, Andrzej, et al.
Publicado: (2023)

Circulating CASK is associated with recurrent focal segmental glomerulosclerosis after transplantation
por: Beaudreuil, Severine, et al.
Publicado: (2019)

Cask methylation involved in the injury of insulin secretion function caused by interleukin1‐β
por: Wang, Tian‐yuan, et al.
Publicado: (2020)

CASK regulates CaMKII autophosphorylation in neuronal growth, calcium signaling, and learning
por: Gillespie, John M., et al.
Publicado: (2013)

Regulation of dopamine release by CASK-β modulates locomotor initiation in Drosophila melanogaster
por: Slawson, Justin B., et al.
Publicado: (2014)

Two heterozygous mutations in the calcium/calmodulin‐dependent serine protein kinase gene (CASK) in cases with developmental disorders
por: Yang, Kunfang, et al.
Publicado: (2022)

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
por: Tibbe, Debora, et al.
Publicado: (2022)

Binding of Y-P30 to Syndecan 2/3 Regulates the Nuclear Localization of CASK
por: Landgraf, Peter, et al.
Publicado: (2014)

Survival of a male patient harboring CASK Arg27Ter mutation to adolescence
por: Mukherjee, Konark, et al.
Publicado: (2020)

Colorectal cancer patients with CASK promotor heterogeneous and homogeneous methylation display different prognosis
por: Liu, Ying, et al.
Publicado: (2020)

CASK and CaMKII function in the mushroom body α′/β′ neurons during Drosophila memory formation
por: Malik, Bilal R., et al.
Publicado: (2013)

CASK modulates the assembly and function of the Mint1/Munc18-1 complex to regulate insulin secretion
por: Zhang, Zhe, et al.
Publicado: (2020)

A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
por: Wu, Sixian, et al.
Publicado: (2022)

CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons
por: McSweeney, Danny, et al.
Publicado: (2022)

Identification and Glycerol-Induced Correction of Misfolding Mutations in the X-Linked Mental Retardation Gene CASK
por: LaConte, Leslie E. W., et al.
Publicado: (2014)

Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH
por: Zhang, Runfeng, et al.
Publicado: (2022)

A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation
por: DeLuca, Stephanie C., et al.
Publicado: (2017)

Direct Interaction of CASK/LIN-2 and Syndecan Heparan Sulfate Proteoglycan and Their Overlapping Distribution in Neuronal Synapses
por: Hsueh, Yi-Ping, et al.
Publicado: (1998)

Liprin-α2 promotes the presynaptic recruitment and turnover of RIM1/CASK to facilitate synaptic transmission
por: Spangler, Samantha A., et al.
Publicado: (2013)

The interaction between CASK and the tumour suppressor Dlg1 regulates mitotic spindle orientation in mammalian epithelia
por: Porter, Andrew P., et al.
Publicado: (2019)

CASK, the Soluble Glomerular Permeability Factor, Is Secreted by Macrophages in Patients With Recurrent Focal and Segmental Glomerulo—Sclerosis
por: Zhang, Xiaomeng, et al.
Publicado: (2020)

CASK Silence Overcomes Sorafenib Resistance of Hepatocellular Carcinoma Through Activating Apoptosis and Autophagic Cell Death
por: Ding, Bisha, et al.
Publicado: (2021)

CASK and FARP localize two classes of post-synaptic ACh receptors thereby promoting cholinergic transmission
por: Li, Lei, et al.
Publicado: (2022)

Human CASK/LIN-2 Binds Syndecan-2 and Protein 4.1 and Localizes to the Basolateral Membrane of Epithelial Cells
por: Cohen, Alexandra R., et al.
Publicado: (1998)

Mass spectrum analysis of membrane proteins reveals that CASK, CD36 and EPB42 are differentially expressed in pancreatic adenocarcinoma
por: Meng, Mingming, et al.
Publicado: (2020)

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus
por: Watkins, Rachel J., et al.
Publicado: (2013)

Smart Winery: A Real-Time Monitoring System for Structural Health and Ullage in Fino Style Wine Casks
por: Cañete, Eduardo, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_qhes6chsuarmfpu5tlcs84vsr8