Split-Luciferase Reassembly Assay to Measure Endoplasmic Reticulum-Mitochondria Contacts in Live Cells.

Endoplasmic reticulum (ER)-mitochondria contact sites play a critical role in cell health and homeostasis, such as the regulation of Ca and lipid homeostasis, mitochondrial dynamics, autophagosome and mitophagosome biogenesis, and apoptosis. Failure to maintain normal ER-mitochondrial coupling is implicated in many neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, and hereditary spastic paraplegia. It is of considerable significance to explore how the dysregulation of ER-mitochondrial contacts could lead to cell death and whether repairing these contacts to the normal level could ameliorate neurodegenerative conditions.

ARX regulates cortical interneuron differentiation and migration.

Mutations in aristaless-related homeobox ( ) are associated with neurodevelopmental disorders including developmental epilepsies, intellectual disabilities, and autism spectrum disorders, with or without brain malformations. Aspects of these disorders have been linked to abnormal cortical interneuron (cIN) development and function. To further understand ARX's role in cIN development, multiple mutant mouse lines were interrogated.

Transcription factors in microcephaly.

Higher cognition in humans, compared to other primates, is often attributed to an increased brain size, especially forebrain cortical surface area. Brain size is determined through highly orchestrated developmental processes, including neural stem cell proliferation, differentiation, migration, lamination, arborization, and apoptosis. Disruption in these processes often results in either a small (microcephaly) or large (megalencephaly) brain.

Physical Activity and Health of Koreans with Spinal Cord Injury during COVID-19.

The primary purpose of this study was to explore the mediating roles of resilience and physical activity (PA) levels on the subjective health of people with spinal cord injury(SCI) during the COVID-19 pandemic. A total of 201 Koreans with SCI completed a survey between February and April 2021. The questionnaire measured participants' PA levels before and during the COVID-19 pandemic, resilience, and subjective health assessment.

A Comparative Analysis of E-Cigarette and Cigarette Posts on Instagram.

E-cigarette use has grown rapidly over the past decade and become a threat to public health. Marketing-especially through social media-has contributed significantly to this growth, which suggests that regulating content in social media will be critical in supporting efforts to reverse this trend. A content analysis was performed to compare 254 e-cigarette posts on Instagram with 228 cigarette posts on the same platform.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.

Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh signaling remain poorly understood. Exome sequencing of families with polymicrogyria (disordered cortical folding) revealed multiple individuals with biallelic deleterious variants in , which encodes a multi-pass transmembrane protein of unknown function. null mice demonstrated holoprosencephaly, craniofacial midline defects, eye defects, and spinal cord patterning changes consistent with impaired Shh signaling, but were without limb defects, suggesting a CNS-specific role of Tmem161b.

Modified Taq DNA Polymerase for Allele-Specific Ultra-Sensitive Detection of Genetic Variants.

Allele-specific PCR (AS-PCR) has been used as a simple, cost-effective method for genotyping and gene mapping in research and clinical settings. AS-PCR permits the detection of single nucleotide variants and insertion or deletion variants owing to the selective extension of a perfectly matched primer (to the template DNA) over a mismatched primer. Thus, the mismatch discrimination power of the DNA polymerase is critical.

The Effects of an Online-Offline Hybrid Exercise Program on the Lives of Children with Cerebral Palsy Using Wheelchairs during the COVID-19 Pandemic in Korea.

Due to the ongoing COVID-19 pandemic, many online programs for social meetings, education, leisure, and physical activities have been developed and provided; however, children with cerebral palsy (CP) cannot enjoy online programs in the same way that those without disabilities can. The aim of this study was to investigate the differences in reintegration to normal living (RNL), social interaction, and quality of life among school-age children with CP after participation in a game-based online−offline hybrid group exercise program. The current study was conducted on 26 children with CP who participated in a hybrid exercise program.

The gendered playing field: Family socioeconomic status and national gender inequality in adolescents' out-of-school physical activity.

Research has shown that both gender and family socioeconomic status (SES) are important determinants of adolescents' physical activity (PA). This study expands our current knowledge by exploring the moderating role of family SES on gender differences in adolescents' out-of-school PA. We also examine whether this moderating effect varies across countries with different levels of gender inequality.

Generation of FLAG-tagged Arx knock-in mouse model.

The Aristaless-related homeobox (ARX) is a paired-like homeodomain transcription factor playing important roles in brain development. Patients with mutations in ARX have a spectrum of neurodevelopmental disorders such as epilepsy, intellectual disability, and autism spectrum disorder, with or without structural abnormalities of the brain such as lissencephaly (smooth brain), microcephaly (small brain), and/or agenesis of the corpus callosum. Mouse models have provided important clues on the pathophysiologic roles of ARX in these disorders.

Reviews via Mobile: The Role of Mobile Cues and Typographical Errors in Online Review Adoption.

Online consumer reviews are increasingly being written on and posted from mobile devices such that some platforms have started to indicate when this is the case with cues such as "via mobile" (i.e., mobile cue).

β2-adrenergic receptor regulates ER-mitochondria contacts.

Interactions between the endoplasmic reticulum (ER) and mitochondria (Mito) are crucial for many cellular functions, and their interaction levels change dynamically depending on the cellular environment. Little is known about how the interactions between these organelles are regulated within the cell. Here we screened a compound library to identify chemical modulators for ER-Mito contacts in HEK293T cells.

When Health Organization Answers the Question: Differential Effects of Dialogic Messages in Website and Twitter through Social Presence and Psychological Distance.

Although there has been a consensus that health organizations should better utilize dialogic capabilities of online platforms, little is known about if the effectiveness of dialogic communication varies across message platforms, and if so, why. An experiment ( = 209) examined how message platforms (i.e.

Men and Women's Different Dreams on the Future of the Gendered Division of Paid Work and Household Work after COVID-19 in South Korea.

Men's long hours of paid work and minimal commitment to household work, combined with the comparably low-level of women's labor force participation, characterize the gendered division of work and family in South Korea. Can the changes in work and family arrangements brought on by the COVID-19 pandemic alter the persevering gendered division of paid work and household work in Korea? Along with school closures and the increased number of employees working from home during COVID-19, do Korean men and women anticipate more equal sharing of paid work and household work? We collected data from 1000 Korean adults during the period of July 3-6, 2020, and asked their predictions about various dimensions of social changes, including the gendered division, after COVID-19. Although a substantial share of both men and women anticipate a reduction in the gendered division of paid work and household work after COVID-19, Korean women are not as optimistic as their male counterparts about this potential reduction.

mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome.

Synaptosomal-associated protein 29 () encodes a member of the SNARE family of proteins implicated in numerous intracellular protein trafficking pathways. maps to the 22q11.2 region and is deleted in 90% of patients with 22q11.

Arx Expression Suppresses Ventralization of the Developing Dorsal Forebrain.

Early brain development requires a tight orchestration between neural tube patterning and growth. How pattern formation and brain growth are coordinated is incompletely understood. Previously we showed that aristaless-related homeobox (ARX), a paired-like transcription factor, regulates cortical progenitor pool expansion by repressing an inhibitor of cell cycle progression.

Ascorbate peroxidase proximity labeling coupled with biochemical fractionation identifies promoters of endoplasmic reticulum-mitochondrial contacts.

To maintain cellular homeostasis, subcellular organelles communicate with each other and form physical and functional networks through membrane contact sites coupled by protein tethers. In particular, endoplasmic reticulum (ER)-mitochondrial contacts (EMC) regulate diverse cellular activities such as metabolite exchange (Ca and lipids), intracellular signaling, apoptosis, and autophagy. The significance of EMCs has been highlighted by reports indicating that EMC dysregulation is linked to neurodegenerative diseases.

Aristaless Related Homeobox (ARX) Interacts with β-Catenin, BCL9, and P300 to Regulate Canonical Wnt Signaling.

Mutations in the Aristaless Related Homeobox (ARX) gene are associated with a spectrum of structural (lissencephaly) and functional (epilepsy and intellectual disabilities) neurodevelopmental disorders. How mutations in this single transcription factor can result in such a broad range of phenotypes remains poorly understood. We hypothesized that ARX functions through distinct interactions with specific transcription factors/cofactors to regulate unique target genes in different cell types.

Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.

Objective: Mutations in receptor expression enhancing protein 1 (REEP1) are associated with hereditary spastic paraplegias (HSPs). Although axonal degeneration is thought to be a predominant feature in HSP, the role of REEP1 mutations in degeneration is largely unknown. Previous studies have implicated a role for REEP1 in the endoplasmic reticulum (ER), whereas others localized REEP1 with mitochondria.

Arx together with FoxA2, regulates Shh floor plate expression.

Mutations in the Aristaless related homeodomain transcription factor (ARX) are associated with a diverse set of X-linked mental retardation and epilepsy syndromes in humans. Although most studies have been focused on its function in the forebrain, ARX is also expressed in other regions of the developing nervous system including the floor plate (FP) of the spinal cord where its function is incompletely understood. To investigate the role of Arx in the FP, we performed gain-of-function studies in the chick using in ovo electroporation, and loss-of-function studies in Arx-deficient mice.

Sustained delivery of rhBMP-2 by means of poly(lactic-co-glycolic acid) microspheres: cranial bone regeneration without heterotopic ossification or craniosynostosis.

Background: Commercially available recombinant human bone morphogenetic protein 2 (rhBMP2) has demonstrated efficacy in bone regeneration, but not without significant side effects. The authors used rhBMP2 encapsulated in poly(lactic-co-glycolic acid) (PLGA) microspheres placed in a rabbit cranial defect model to test whether low-dose, sustained delivery can effectively induce bone regeneration.

Methods: The rhBMP2 was encapsulated in 15% PLGA using a double-emulsion, solvent extraction/evaporation technique, and its release kinetics and bioactivity were tested.

Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.

Mutations in the Aristaless-related homeobox gene (ARX) are associated with a wide variety of neurologic disorders including lissencephaly, hydrocephaly, West syndrome, Partington syndrome, and X-linked intellectual disability with or without epilepsy. A genotype-phenotype correlation exists for ARX mutations; however, the molecular basis for this association has not been investigated. To begin understanding the molecular basis for ARX mutations, we tested the DNA binding sequence preference and transcriptional repression activity for Arx, deletion mutants and mutants associated with various neurologic disorders.

α-Syn suppression reverses synaptic and memory defects in a mouse model of dementia with Lewy bodies.

Abnormally accumulated α-synuclein (α-syn) is a pathological hallmark of Lewy body-related disorders such as Parkinson's disease (PD) and dementia with Lewy body disease (DLB). However, it is not well understood whether and how abnormal accumulation of α-syn leads to cognitive impairment or dementia in PD and DLB. Furthermore, it is not known whether targeted removal of α-syn pathology can reverse cognitive decline.

XLMR candidate mouse gene, Zcchc12 (Sizn1) is a novel marker of Cajal-Retzius cells.

Sizn1 (Zcchc12) is a transcriptional co-activator that positively modulates bone morphogenic protein (BMP) signaling through its interaction with Smad family members and CBP. We have demonstrated a role for Sizn1 in basal forebrain cholinergic neuron specific gene expression. Furthermore, mutations in SIZN1 have been associated with X-linked mental retardation.