AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome.

The microcephaly-capillary malformation (MIC-CAP) syndrome is a life-threatening disease caused by biallelic mutations of the STAMBP gene, which encodes an endosomal deubiquitinating enzyme. To establish a suitable preclinical animal model for clinical therapeutic practice, we generated a central nervous system (CNS)-specific Stambp knockout mouse model (Stambp ) that phenocopies Stambp null mice including progressive microcephaly, postnatal growth retardation and complete penetrance of preweaning death. In this MIC-CAP syndrome mouse model, early-onset neuronal death occurs specifically in the hippocampus and cortex, accompanied by aggregation of ubiquitinated proteins, and massive neuroinflammation.

The Cellular Microbiome of Visceral Organs: An Inherent Inhabitant of Parenchymal Cells.

The cell is the basic unit of life. It is composed of organelles and various organic and inorganic biomolecules. Recent 16S ribosomal ribonucleic acid (16S rRNA) gene sequencing studies have revealed the presence of tissue bacteria in both tumor and normal tissues.

Dynamic Regulation of in the Social and Motor Development of Zebrafish: A Developmental Behavior Analysis.

Both social and motor development play an essential role in an individual's physical, psychological, and social well-being. It is essential to conduct a dynamic analysis at multiple time points during the developmental process as it helps us better understand and evaluate the trajectory and changes in individual development. Recently, some studies found that mutations in the gene may contribute to motor impairments, delays in achieving motor milestones, and deficits in social behavior and communication skills in patients.

Behavioral and Sensory Deficits Associated with Dysfunction of GABAergic System in a Novel -Deficient Zebrafish Model.

Hyper-reactivity to sensory inputs is a common and debilitating symptom of autism spectrum disorder (ASD), but the underlying neural abnormalities remain unclear. Two of three patients in our clinical cohort screen harboring de novo mutations also exhibited high sensitivity to visual, auditory, and tactile stimuli, so we examined whether shank2 deficiencies contribute to sensory abnormalities and other ASD-like phenotypes by generating a stable -deficient zebrafish model (). The adult zebrafish demonstrated reduced social preference and kin preference as well as enhanced behavioral stereotypy, while larvae exhibited hyper-sensitivity to auditory noise and abnormal hyperactivity during dark-to-light transitions.

A single-cell atlas reveals the heterogeneity of meningeal immunity in a mouse model of Methyl CpG binding protein 2 deficiency.

Methyl CpG binding protein 2 (MeCP2) is a DNA methylation reader protein. Mutations in are the major cause of Rett syndrome (RTT). Increasing evidence has shown that dysregulated immunity and chronic subclinical inflammation are linked to MeCP2 deficiency and contribute to RTT development and deterioration.

Optimization method for low-loss single-mode bending negative curvature anti-resonant hollow-core fiber designed by mode modification.

A method of designing negative curvature anti-resonant hollow-core fibers (NC-AR-HCFs) with bending resistance is proposed, by which the fundamental mode (FM) and higher-order mode (HOM) can be adjusted. An asymmetric double-ring negative curvature hollow-core fiber (ADR-NC-HCF) is proposed to verify the method. The ADR-NC-HCF achieves the FM loss of 0.

Novel compound heterozygous mutation in causes a neurodevelopmental disorder by disrupting cortical proliferation.

Background: Mutations in the gene, which encodes a deubiquitinating isopeptidase called STAM-binding protein, are related to global developmental delay, microcephaly, and capillary malformation. Owing to the limited number of reported cases, the functional and phenotypic characteristics of variants require further elucidation.

Materials And Methods: Whole exome sequencing was performed on a patient presenting with a neurodevelopmental disorder.

Deleterious Variation in BR Serine/Threonine Kinase 2 Classified a Subtype of Autism.

Recently, deleterious variants in the BR serine/threonine kinase 2 () gene have been reported in patients with autism spectrum disorder (ASD), suggesting that is a new high-confidence ASD risk gene, which presents an opportunity to understand the underlying neuropathological mechanisms of ASD. In this study, we performed clinical and neurobehavioral evaluations of a proband with a non-sense variant in (p.R222X) with other reported mutant patients.

Social Deficits and Repetitive Behaviors Are Improved by Early Postnatal Low-Dose VPA Intervention in a Novel -Deficient Zebrafish Model.

Mutations of the gene are found in some autism spectrum disorder (ASD) patients, and animal models harboring mutations exhibit a variety of ASD-like behaviors, presenting a unique opportunity to explore the underlying neuropathological mechanisms and potential pharmacological treatments. The histone deacetylase (HDAC) valproic acid (VPA) has demonstrated neuroprotective and neuroregenerative properties, suggesting possible therapeutic utility for ASD. Therefore, -associated ASD-like symptoms present a convenient model to evaluate the potential benefits, therapeutic window, and optimal dose of VPA.

Early Screening of Autism in Toddlers via Response-To-Instructions Protocol.

Early screening of autism spectrum disorder (ASD) is crucial since early intervention evidently confirms significant improvement of functional social behavior in toddlers. This article attempts to bootstrap the response-to-instructions (RTIs) protocol with vision-based solutions in order to assist professional clinicians with an automatic autism diagnosis. The correlation between detected objects and toddler's emotional features, such as gaze, is constructed to analyze their autistic symptoms.