Publications by authors named "Kousuke Yonemoto"
Article Synopsis
- GNAO1 encodes a protein involved in brain development, and its mutations lead to serious neurological issues such as developmental delays and seizures in infants.
- Research shows that reducing Gnao1 levels disrupts important signaling pathways and affects neuron growth, particularly in cells from patients with specific mutations.
- The study suggests that targeting the Rho GTPase pathway could be a potential therapeutic strategy for treating GNAO1-associated encephalopathy.
Article Synopsis
- The Shank3 gene, linked to autism, has several isoforms (Shank3a-f) and knockout mice lacking Shank3a/b show heightened seizure susceptibility.
- Researchers conducted a proteomic analysis that identified 348 proteins interacting with the N-terminal and ankyrin repeat domains of Shank3a/b, highlighting significant associations with RNA-binding proteins and components involved in splicing and ribosomes.
- The interaction between Shank3 and the protein Nono was validated, and knockout mice also displayed abnormal splicing of autism-related genes, suggesting Shank3 regulates RNA-binding protein interactions and gene expression in the developing brain.
Pathogenic variants in ATP1A3, the gene encoding the α3 subunit of the Na+/K+-ATPase, cause alternating hemiplegia of childhood (AHC) and related disorders. Impairments in Na+/K+-ATPase activity are associated with the clinical phenotype. However, it remains unclear whether additional mechanisms are involved in the exaggerated symptoms under stressed conditions in patients with AHC.
View Article and Find Full Text PDFIntroduction: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive.
Case Presentation: A Japanese boy with delayed psychomotor development showed ataxic movements from age 5 years and myoclonic seizures from age 12 years.
Microglia play versatile roles in progression of and protection against neuroinflammatory diseases. Little is known, however, about the mechanisms underlying the diverse reactivity of microglia to inflammatory conditions. We investigated how human induced microglia-like (iMG) cells respond to innate immune ligands.
View Article and Find Full Text PDFArticle Synopsis
- Epileptic seizures are common in children with autism spectrum disorder (ASD), suggesting a link between the two due to hyperactive neurons.
- This study focuses on the role of the ASD-related gene Shank3 in the development of thalamocortical neurons, finding unique expression patterns after birth.
- Mice lacking Shank3 showed increased seizure susceptibility and reduced signaling in specific brain regions, indicating Shank3's role in preventing hyperexcitability in these neurons during early development.
Objectives: To determine the neurodevelopmental outcomes of very-low-birth-weight infants (VLBWIs, birth weight <1,500 g) after 9 years of follow-up.
Methods: This study prospectively recruited 224 VLBWIs born from 2003 to 2009 in Kyushu University Hospital, Japan. Comorbidities of neurocognitive impairment, epilepsy, and autism spectrum disorder or attention-deficit hyperactivity disorder (ASD/ADHD) were assessed at age 3, 6, and 9 years.
Subacute sclerosing panencephalitis (SSPE) is a slow virus infection associated with mutant measles virus (MeV). The long-term outcome of antiviral treatments remains to be determined. We herein present a Japanese boy who was diagnosed with SSPE at 10 years of age.
View Article and Find Full Text PDFBackground: The collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is known about the long-term outcomes of patients with mildly affecting COL4A1 mutations.
View Article and Find Full Text PDFPurpose: Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a leading cause of childhood-onset encephalopathy in Japan. Children with AESD frequently develop intractable epilepsy, whereas their treatment options remain to be determined.
Method: We present 2 unrelated girls, who developed AESD at 25 months (case 1) and 12 months of age (case 2).