Spontaneously Blinkogenic Probe for Wash-Free Single-Molecule Localization-Based Super-Resolution Imaging in Living Cells.

Single-molecule localization super-resolution fluorescence imaging relies on the fluorescence ON/OFF switching of fluorescent probes to break the diffraction limit. However, the unreacted or nonspecifically bound probes cause non-targeted ON/OFF switching, resulting in substantial fluorescence background that significantly reduces localization precision and accuracy. Here, we report a blinkogenic probe HM-DS655-Halo that remains blinking OFF until it binds to HaloTag, thereby triggering its self-blinking activity and enabling its application in direct SMLM imaging in living cells without wash-out steps.

Effects of nusinersen on motor function in children with spinal muscular atrophy: a retrospective study.

Background: Spinal muscular atrophy (SMA) is a genetic progressive neuromuscular disease. Nusinersen is the first disease modifying drug approved to treat patients with SMA. Our study aimed to evaluate the efficacy of nusinersen treatment on motor function in children with SMA.

Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.

Nitrogen permease regulator-like 3 (NPRL3) has been reported to play a role in seizure onset. The principal manifestation of NPRL3-related epilepsy is a range of epilepsy-associated syndromes, such as familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), and temporal lobe epilepsy (TLE). The association between phenotype and genotype of NPRL3 mutations remains inadequately described.

Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis.

Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease which leads to progressive muscle weakness and atrophy. Our systematic review and meta-analysis aims to explore the efficacy and safety of onasemnogene abeparvovec in SMA patients. We searched PubMed, EMBASE, Web of Science and Cochrane through April 2022.

Case Report: Christianson Syndrome Caused by Mutation: From Case to Genotype-Phenotype Analysis.

Christianson syndrome (CS) is an X-linked neurodevelopmental syndrome characterized by microcephaly, epilepsy, ataxia, and severe generalized developmental delay. Pathogenic mutations in the gene, which encodes the Na/H exchanger protein member 6 (NHE6), are associated with CS and autism spectrum disorder in males. In this study, whole exome sequencing (WES) and Sanger sequencing revealed a novel frameshift variant c.

HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.

Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes. A nuclear gene HPDL (4-hydroxyphenylpyruvate dioxygenase-like), which encodes an intermembrane mitochondrial protein, has been recently implicated in causing a neurodegenerative disease characterized by pediatric-onset spastic movement phenotypes. Here, we report six Chinese patients with bi-allelic HPDL pathogenic variants from four unrelated families showing neuropathic symptoms of variable severity, including developmental delay/intellectual disability, spasm, and hypertonia.

A graphene oxide-aided triple helical aggregation-induced emission biosensor for highly specific detection of charged collagen peptides.

Aggregation-induced emission (AIE) probes have emerged as promising "turn-on" sensing tools for DNA and proteins, and the AIE biosensors conjugated with graphene oxide (GO) have shown improved selectivity. Collagen is an essential structural protein in the human body, and its degraded products are involved in a plethora of severe diseases. Collagen has a high content of charged amino acids, while EOG represents one of the most abundant charged triplets in Type I collagen.

Streptococcal infection and immune response in children with Tourette's syndrome.

Background: Streptococcal infection and basal ganglia inflammation are hypothesized to be involved in Tourette's syndrome (TS). There is a need for effective therapies for managing TS. We studied streptococcal infection and immunity in TS following immunomodulator (pidotimod) therapy.

[Diagnostic value of serum Cystatin C in renal function impairments in children with viral encephalitis].

Objective: To study the value of serum Cystatin C (Cyst C) in the evaluation of glomerular filtration function in children with viral encephalitis.

Methods: Serum levels of Cyst C, urea nitrogen (BUN) and creatinine (Cr) were measured in 92 children with viral encephalitis and in 50 healthy children as a control group. According to glomerular filtration rate (GFR), the encephalitis group was subdivided into normal renal function, renal insufficiency in the compensatory or decompensatory stage, and renal failure /end-stage groups.