Cargando…

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

CASK is a unique membrane-associated guanylate kinase (MAGUK) because of its Ca(2+)/calmodulin-dependent kinase (CaMK) domain. We describe four male patients with a severe neurodevelopmental disorder with microcephaly carrying missense variants affecting the CaMK domain. One boy who carried the p.E1...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tibbe, Debora, Ferle, Pia, Krisp, Christoph, Nampoothiri, Sheela, Mirzaa, Ghayda, Assaf, Melissa, Parikh, Sumit, Kutsche, Kerstin, Kreienkamp, Hans-Jürgen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Life Science Alliance LLC 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9500383/ https://www.ncbi.nlm.nih.gov/pubmed/36137748 http://dx.doi.org/10.26508/lsa.202201512

Ejemplares similares

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

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

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

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

Liprins in oncogenic signaling and cancer cell adhesion
por: Pehkonen, Henna, et al.
Publicado: (2021)

Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein
por: Mori, Takuma, et al.
Publicado: (2023)

PKC-phosphorylation of Liprin-α3 triggers phase separation and controls presynaptic active zone structure
por: Emperador-Melero, Javier, et al.
Publicado: (2021)

SAD-1 kinase controls presynaptic phase separation by relieving SYD-2/Liprin-α autoinhibition
por: McDonald, Nathan A., et al.
Publicado: (2023)

SAD-1 kinase controls presynaptic phase separation by relieving SYD-2/Liprin-α autoinhibition
por: McDonald, Nathan A., et al.
Publicado: (2023)

Liprin-α-Mediated Assemblies and Their Roles in Synapse Formation
por: Xie, Xingqiao, et al.
Publicado: (2021)

A new role of multi scaffold protein Liprin-α: Liprin-α suppresses Rho-mDia mediated stress fiber formation
por: Sakamoto, Satoko, et al.
Publicado: (2012)

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

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

Neurotransmitter release regulated by a MALS–liprin-α presynaptic complex
por: Olsen, Olav, et al.
Publicado: (2005)

Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences
por: Dexheimer, Joy, et al.
Publicado: (2022)

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

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

From microcephaly to megalencephaly: determinants of brain size
por: Pirozzi, Filomena, et al.
Publicado: (2018)

SUN-049 Growth Hormone Deficiency Associated with a Rare Overgrowth Syndrome
por: Davis, Shanlee, et al.
Publicado: (2019)

Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation
por: Yung, Delphine, et al.
Publicado: (2022)

Structural basis of liprin-α-promoted LAR-RPTP clustering for modulation of phosphatase activity
por: Xie, Xingqiao, et al.
Publicado: (2020)

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

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

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

The detection of EpCAM(+) and EpCAM(–) circulating tumor cells
por: Wit, Sanne de, et al.
Publicado: (2015)

Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca(2+)/CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites
por: Stucchi, Riccardo, et al.
Publicado: (2018)

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

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

Liprin-α/SYD-2 determines the size of dense projections in presynaptic active zones in C. elegans
por: Kittelmann, Maike, et al.
Publicado: (2013)

Liprin-α1 is a regulator of vimentin intermediate filament network in the cancer cell adhesion machinery
por: Pehkonen, Henna, et al.
Publicado: (2016)

Liprin-α1 and ERC1 control cell edge dynamics by promoting focal adhesion turnover
por: Astro, Veronica, et al.
Publicado: (2016)

Liprin-α-1 is a novel component of the murine neuromuscular junction and is involved in the organization of the postsynaptic machinery
por: Bernadzki, Krzysztof M., et al.
Publicado: (2017)

Structural insights into selective interaction between type IIa receptor protein tyrosine phosphatases and Liprin-α
por: Wakita, Maiko, et al.
Publicado: (2020)

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

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)

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

Biochemical and Functional Characterization of the Interaction between Liprin-α1 and GIT1: Implications for the Regulation of Cell Motility
por: Asperti, Claudia, et al.
Publicado: (2011)

Hook-up of GluA2, GRIP and liprin-α for cholinergic muscarinic receptor-dependent LTD in the hippocampus
por: Wu, Long-Jun, et al.
Publicado: (2009)

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

Cannot write session to /tmp/vufind_sessions/sess_foqjodl6ah1upgvgm3ct3m4h2d