Koh‐ichi Nagata
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View article: The Role of DEAF1 in Dendritic and Synaptic Development: Insights Into Neurodevelopmental Disorders
The Role of DEAF1 in Dendritic and Synaptic Development: Insights Into Neurodevelopmental Disorders Open
DEAF1 functions as both a transcriptional activator and repressor and is implicated in neurodevelopmental disorders (NDDs); however, its role in neuronal development remains poorly understood. In this study, we investigated the role of DEA…
View article: A Pleiotropic and Functionally Divergent RAC3 Variant Disrupts Neurodevelopment and Impacts Organogenesis
A Pleiotropic and Functionally Divergent RAC3 Variant Disrupts Neurodevelopment and Impacts Organogenesis Open
RAC3 encodes a small Rho-family GTPase essential for cytoskeletal regulation and neurodevelopment, and de novo RAC3 variants typically act as gain-of-function alleles that cause severe neurodevelopmental disorders. In this study, we analyz…
View article: A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation
A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation Open
RAC3 encodes a small GTPase of the Rho family, crucial for actin cytoskeleton organization and signaling pathways. De novo deleterious variants in RAC3 cause neurodevelopmental disorder with structural brain anomalies and dysmorphic facies…
View article: The MCPH7 Gene Product STIL Is Essential for Dendritic Spine Formation
The MCPH7 Gene Product STIL Is Essential for Dendritic Spine Formation Open
Dendritic spine formation/maintenance is highly dependent on actin cytoskeletal dynamics, which is regulated by small GTPases Rac1 and Cdc42 through their downstream p21-activated kinase/LIM-kinase-I/cofilin pathway. ARHGEF7, also known as…
View article: An unstable variant of GAP43 leads to neurodevelopmental deficiency
An unstable variant of GAP43 leads to neurodevelopmental deficiency Open
View article: The p.R66W Variant in RAC3 Causes Severe Fetopathy Through Variant-Specific Mechanisms
The p.R66W Variant in RAC3 Causes Severe Fetopathy Through Variant-Specific Mechanisms Open
RAC3 encodes a small GTPase of the Rho family that plays a critical role in actin cytoskeleton remodeling and intracellular signaling regulation. Pathogenic variants in RAC3, all of which reported thus far affect conserved residues within …
View article: Analyses of Conditional Knockout Mice for Pogz, a Gene Responsible for Neurodevelopmental Disorders in Excitatory and Inhibitory Neurons in the Brain
Analyses of Conditional Knockout Mice for Pogz, a Gene Responsible for Neurodevelopmental Disorders in Excitatory and Inhibitory Neurons in the Brain Open
POGZ (Pogo transposable element derived with ZNF domain) is known to function as a regulator of gene expression. While variations in the POGZ gene have been associated with intellectual disabilities and developmental delays in humans, the …
View article: Analyses of Conditional Knockout Mice for Pogz, a Responsible Gene for Neurodevelopmental Disorders, in Excitatory and Inhibitory Neurons in the Brain
Analyses of Conditional Knockout Mice for Pogz, a Responsible Gene for Neurodevelopmental Disorders, in Excitatory and Inhibitory Neurons in the Brain Open
POGZ (Pogo transposable element derived with ZNF domain) is known to function as a regulator of gene expression. While variations in the POGZ gene have been associated with intellectual disabilities and developmental delays in humans, the …
View article: Expression Analyses of C-Terminal-Binding Protein 1 (CtBP1) during Mouse Brain Development
Expression Analyses of C-Terminal-Binding Protein 1 (CtBP1) during Mouse Brain Development Open
Introduction: C-terminal-binding protein 1 (CtBP1) is a multi-functional protein with well-established roles as a transcriptional co-repressor in the nucleus and a regulator of membrane fission in the cytoplasm. Although CtBP…
View article: A Novel Constitutively Active <a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1"> <a:mi>c</a:mi> <a:mo>.</a:mo> <a:mn>98</a:mn> <a:mi>G</a:mi> <a:mo>></a:mo> <a:mi>C</a:mi> </a:math>, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization
A Novel Constitutively Active c . 98 G > C , p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization Open
Whole exome sequencing/whole genome sequencing has accelerated the identification of novel genes associated with intellectual disabilities (ID), and RAB11A which encodes an endosomal small GTPase is among them. However, consequent neural a…
View article: A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association Open
RAC1 at 7p22.1 encodes a RAC family small GTPase that regulates actin cytoskeleton organization and intracellular signaling pathways. Pathogenic RAC1 variants result in developmental delay and multiple anomalies. Here, exome sequencing ide…
View article: Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome
Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome Open
22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of developing various psychiatric and developmental disorders, including schizophrenia and early-onset Parkinson’s disease. Recently, a mouse model of this disease, Del(3…
View article: Septin-mediated RhoA activation engages the exocyst complex to recruit the cilium transition zone
Septin-mediated RhoA activation engages the exocyst complex to recruit the cilium transition zone Open
Septins are filamentous GTPases that play important but poorly characterized roles in ciliogenesis. Here, we show that SEPTIN9 regulates RhoA signaling at the base of cilia by binding and activating the RhoA guanine nucleotide exchange fac…
View article: Expression Analyses of Rich2/Arhgap44, a Rho Family GTPase-Activating Protein, during Mouse Brain Development
Expression Analyses of Rich2/Arhgap44, a Rho Family GTPase-Activating Protein, during Mouse Brain Development Open
Rho family small GTPases, such as Rho, Rac, and Cdc42, play essential roles during brain development, by regulating cellular signaling and actin cytoskeletal reorganization. Rich2/Arhgap44, a Rac- and Cdc42-specific GTPase-activating prote…
View article: Pathophysiological Mechanism of Neurodevelopmental Disorders—Overview
Pathophysiological Mechanism of Neurodevelopmental Disorders—Overview Open
Technological advancements in next-generation DNA sequencing have enabled elucidation of many genetic causes of neurodevelopmental disorders (NDDs) over the last two decades [...]
View article: Erratic and blood vessel-guided migration of astrocyte progenitors in the cerebral cortex
Erratic and blood vessel-guided migration of astrocyte progenitors in the cerebral cortex Open
View article: Erratic and Blood Vessel-Guided Dispersion of Astrocyte Progenitors in the Cerebral Cortex
Erratic and Blood Vessel-Guided Dispersion of Astrocyte Progenitors in the Cerebral Cortex Open
Astrocytes are one of the most abundant cell types in the mammalian brain. They play essential roles in synapse formation, maturation, and elimination. However, how astrocytes migrate into the gray matter to accomplish these processes is p…
View article: Septin-Mediated RhoA Activation Engages the Exocyst Complex to Recruit the Cilium Transition Zone
Septin-Mediated RhoA Activation Engages the Exocyst Complex to Recruit the Cilium Transition Zone Open
Septins are filamentous GTPases that play important, but poorly characterized roles in ciliogenesis. Here, we show that SEPTIN9 regulates RhoA signaling at the base of cilia by binding and activating the RhoA guanine nucleotide exchange fa…
View article: Impaired Function of PLEKHG2, a Rho-Guanine Nucleotide-Exchange Factor, Disrupts Corticogenesis in Neurodevelopmental Phenotypes
Impaired Function of PLEKHG2, a Rho-Guanine Nucleotide-Exchange Factor, Disrupts Corticogenesis in Neurodevelopmental Phenotypes Open
Homozygosity of the p.Arg204Trp variation in the Pleckstrin homology and RhoGEF domain containing G2 (PLEKHG2) gene, which encodes a Rho family-specific guanine nucleotide-exchange factor, is responsible for microcephaly with intellectual …
View article: Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders
Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders Open
The Connector Enhancer of Kinase Suppressor of Ras-2 (CNKSR2), also known as CNK2 or MAGUIN, is a scaffolding molecule that contains functional protein binding domains: Sterile Alpha Motif (SAM) domain, Conserved Region in CNK (CRIC) domai…
View article: Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What’s behind Neuro-RACopathies
Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What’s behind Neuro-RACopathies Open
Rho family guanosine triphosphatases (GTPases) regulate cellular signaling and cytoskeletal dynamics, playing a pivotal role in cell adhesion, migration, and cell cycle progression. The Rac subfamily of Rho GTPases consists of three highly…
View article: Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development
Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development Open
View article: The synaptic scaffolding protein CNKSR2 interacts with CYTH2 to mediate hippocampal granule cell development
The synaptic scaffolding protein CNKSR2 interacts with CYTH2 to mediate hippocampal granule cell development Open
CNKSR2 is a synaptic scaffolding molecule that is encoded by the CNKSR2 gene located on the X chromosome. Heterozygous mutations to CNKSR2 in humans are associated with intellectual disability and epileptic seizures, yet the cellular and m…
View article: Author Correction: Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice
Author Correction: Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice Open
View article: Physiological Significance of WDR45, A Responsible Gene for β-propeller Protein Associated Neurodegeneration (BPAN), in Brain Development
Physiological Significance of WDR45, A Responsible Gene for β-propeller Protein Associated Neurodegeneration (BPAN), in Brain Development Open
WDR45 plays an essential role in the early stage of autophagy. De novo heterozygous mutations in WDR45 have been known to cause b-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumul…
View article: Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice
Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice Open
View article: Heterotrimeric G‐protein, Gi1, is involved in the regulation of proliferation, neuronal migration, and dendrite morphology during cortical development in vivo
Heterotrimeric G‐protein, Gi1, is involved in the regulation of proliferation, neuronal migration, and dendrite morphology during cortical development in vivo Open
Heterotrimeric G‐proteins are composed of α, β, and γ subunits, and function as signal transducers. Critical roles of the α‐subunits of Gi/o family heterotrimeric G‐proteins, Gαi2, and Gαo1, have so far been reported in brain development a…
View article: Spatiotemporally Dependent Vascularization Is Differently Utilized among Neural Progenitor Subtypes during Neocortical Development
Spatiotemporally Dependent Vascularization Is Differently Utilized among Neural Progenitor Subtypes during Neocortical Development Open
To facilitate efficient oxygen and nutrient delivery, blood vessels in the brain form three-dimensional patterns. However, little is known about how blood vessels develop stereographically in the neocortex and how they control the expansio…
View article: Role of Per3, a circadian clock gene, in brain development
Role of Per3, a circadian clock gene, in brain development Open
View article: Role of Per3, a circadian clock gene, in embryonic development of mouse cerebral cortex
Role of Per3, a circadian clock gene, in embryonic development of mouse cerebral cortex Open