Cargando…

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome

Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a neurodevelopmental disorder caused by the deficiency of the X-chromosomal gene CASK. However, the molecular mechanisms by which CASK deficiency causes cerebellar hypoplasia in this syndrome remain elusive. In this study, we u...

Descripción completa

Detalles Bibliográficos
Autores principales:	Guo, Qi, Kouyama-Suzuki, Emi, Shirai, Yoshinori, Cao, Xueshan, Yanagawa, Toru, Mori, Takuma, Tabuchi, Katsuhiko
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136522/ https://www.ncbi.nlm.nih.gov/pubmed/37190086 http://dx.doi.org/10.3390/cells12081177

Ejemplares similares

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

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
por: Hayashi, Shin, et al.
Publicado: (2017)

IQSEC2 Deficiency Results in Abnormal Social Behaviors Relevant to Autism by Affecting Functions of Neural Circuits in the Medial Prefrontal Cortex
por: Mehta, Anuradha, et al.
Publicado: (2021)

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

Risperidone Mitigates Enhanced Excitatory Neuronal Function and Repetitive Behavior Caused by an ASD-Associated Mutation of SIK1
por: Badawi, Moataz, et al.
Publicado: (2021)

An Epilepsy-Associated Mutation of Salt-Inducible Kinase 1 Increases the Susceptibility to Epileptic Seizures and Interferes with Adrenocorticotropic Hormone Therapy for Infantile Spasms in Mice
por: Pang, Bo, et al.
Publicado: (2022)

Correction: Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by downregulating GluN2B
por: Mori, Takuma, et al.
Publicado: (2019)

Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B
por: Mori, Takuma, et al.
Publicado: (2019)

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

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)

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)

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

The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model
por: Mukherjee, Konark, et al.
Publicado: (2022)

Fluorescent protein tagging of endogenous protein in brain neurons using CRISPR/Cas9-mediated knock-in and in utero electroporation techniques
por: Uemura, Takeshi, et al.
Publicado: (2016)

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

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)

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia
por: Xie, Guilan, et al.
Publicado: (2022)

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

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

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

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)

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

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

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

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

Granular layEr Simulator: Design and Multi-GPU Simulation of the Cerebellar Granular Layer
por: Florimbi, Giordana, 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)

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)

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)

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

Computational Models of Timing Mechanisms in the Cerebellar Granular Layer
por: Yamazaki, Tadashi, et al.
Publicado: (2009)

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)

Cannot write session to /tmp/vufind_sessions/sess_ici7ahfr23p9c2p7452gm7dj12