Role of Senataxin in Amyotrophic Lateral Sclerosis
AbstractAmyotrophic lateral sclerosis (ALS) is a progressive, uncurable neurodegenerative disorder characterized by the degradation of motor neurons leading to muscle impairment, failure, and death. Senataxin, encoded by theSETX gene, is a human helicase protein whose mutations have been linked with ALS onset, particularly in its juvenile ALS4 form. Using senataxin ’s yeast homolog Sen1 as a model for study, it is suggested that senataxin’s N-terminus interacts with RNA polymerase II, whilst its C-terminus engages in helicase activity. Senataxin is heavily involved in transcription regulation, termination, and R-loop r...
Source: Journal of Molecular Neuroscience - November 20, 2023 Category: Neuroscience Source Type: research
Effect of Proinflammatory S100A9 Protein on Migration and Proliferation of Microglial Cells
AbstractAlzheimer ’s disease (AD) is a multifactorial disease affecting aging population worldwide. Neuroinflammation became a focus of research as one of the major pathologic processes relating to the disease onset and progression. Proinflammatory S100A9 is the central culprit in the amyloid-neuroinflammatory casc ade implicated in AD and other neurodegenerative diseases. We studied the effect of S100A9 on microglial BV-2 cell proliferation and migration. The responses of BV-2 cells to S100A9 stimulation were monitored in real-time using live cell microscopy, transcriptome sequencing, immunofluorescence stain ing, weste...
Source: Journal of Molecular Neuroscience - November 10, 2023 Category: Neuroscience Source Type: research
A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency
AbstractOtofaciocervical syndrome (OTFCS) is a rare genetic disorder of both autosomal recessive and autosomal dominant patterns of inheritance. It is caused by biallelic or monoallelic mutations inPAX1 orEYA1 genes, respectively. Here, we report an OTFCS2 female patient of 1st consanguineous healthy parents. She manifested facial dysmorphism, hearing loss, intellectual disability (ID), and delayed language development (DLD) as the main clinical phenotype. The novel homozygous variant c.1212dup (p.Gly405Argfs*51) in thePAX1 gene was identified by whole exome sequencing (WES), and family segregation confirmed the heterozygo...
Source: Journal of Molecular Neuroscience - November 4, 2023 Category: Neuroscience Source Type: research
Correction: Age-Dependent Regulation of Dendritic Spine Density and Protein Expression in Mir324 KO Mice
(Source: Journal of Molecular Neuroscience)
Source: Journal of Molecular Neuroscience - November 3, 2023 Category: Neuroscience Source Type: research
A Comprehensive Investigation of Risk Association Between the -786 T & gt; C, + 884 G & gt; A, VNTR, rs743506, rs3918226 of eNOS and Susceptibility of Migraine: A Updated Meta-Analysis Utilizing Trial Sequential Analysis
AbstractWith a feature of complex pathogenic mechanisms, migraine is a well-known common neurovascular disorder. Multiple genes are responsible for hindering the susceptibility of pain threshold one of which is theeNOS gene and its variants. Multiple independent observational studies with case –control design produced conflicting findings, which can be attributed to a variety of factors including varying sample sizes, demographic stratification, technique application, etc. Therefore, in the present study we aimed to find out the precise risk between the selected variant ofeNOS and the risk of migraine and its clinical su...
Source: Journal of Molecular Neuroscience - October 30, 2023 Category: Neuroscience Source Type: research
IFN- γ Triggered IFITM2 Expression to Induce Malignant Phenotype in Elderly GBM
AbstractAdvanced age is an important risk factor for the worse clinical presentation of gliomas, especially glioblastoma (GBM). The tumor microenvironment (TME) in elderly GBM (eGBM) patients is considerably different from that in young ones, which causes the inferior clinical outcome. Based on the data from the Chinese Glioma Genome Atlas RNA sequence (CGGA RNA-seq), the Cancer Genome Atlas RNA array (TCGA RNA-array), and gene set enrichment (GSE) 16011 array sets, the differential genes and function between eGBM ( ≥ 60 years old) and young GBM (yGBM, 20–60 years old) groups were explored. Immunohistochemistry (IH...
Source: Journal of Molecular Neuroscience - October 27, 2023 Category: Neuroscience Source Type: research
Hederagenin Upregulates PTPN1 Expression in A β-Stimulated Neuronal Cells, Exerting Anti-Oxidative Stress and Anti-Apoptotic Activities
In conclusion, hederagenin attenuates oxidative stress and apoptosis in neuronal cells stimulated with Aβ by promoting PTPN1/Akt signaling activation. (Source: Journal of Molecular Neuroscience)
Source: Journal of Molecular Neuroscience - October 26, 2023 Category: Neuroscience Source Type: research
The Role of Cystathionine- β-Synthase, H2S, and miRNA-377 in Hypoxic-Ischemic Encephalopathy: Insights from Human and Animal Studies
AbstractWe aimed to investigate the mechanism underlying the roles of miRNA-377, Cystathionine- β-synthase (CBS), and hydrogen sulfide (H2S) in the development of hypoxic-ischemic encephalopathy (HIE). We investigated the relationship between CBS, H2S, and miR-377 in both humans with HIE and animals with hypoxic-ischemic insult. An animal model of fetal rats with hypoxic-ischemic brain injury was established, and the fetal rats were randomly assigned to control and hypoxic-ischemic groups for 15 min (mild) and 30 min (moderate) groups. Human samples were collected from children diagnosed with HIE. Healthy or non-neurol...
Source: Journal of Molecular Neuroscience - October 21, 2023 Category: Neuroscience Source Type: research
