Protein Structure-based FUS Mutational Subtypes Are Associated With Protein Mislocalization in Amyotrophic Lateral Sclerosis Patients.

The mislocalization of RNA-binding proteins (RBPs) from nucleus to cytoplasm and the formation of aggregates are hallmarks of neurodegeneration. Amyotrophic lateral sclerosis (ALS) disease-causing mutations in the fused in sarcoma (FUS) gene, encoding an RNA-binding protein, cluster at the C-terminal proline/tyrosine-nuclear localization signal (PY-NLS) domain, which is crucial for mediating nucleus-cytoplasm translocation by binding to Transportin-1. However, the mechanisms underlying heterogeneous protein mislocalization and age at onset (AAO) of ALS cases carrying FUS PY-NLS mutations remain unclear.

Outcomes of laser peripheral iridotomy in subgroups of primary angle closure disease eyes according to swept-source optical coherence tomography parameters.

Aims: This study aimed to examine the impact of laser peripheral iridotomy (LPI) on subgroups of primary angle closure eyes based on swept-source optical coherence tomography (SS-OCT).

Methods: SS-OCT was used to image 115 eyes with primary angle-closure disease (PACD) at prior to LPI, 1 week, 4 weeks and 12 weeks after LPI. A hierarchical cluster analysis was conducted to classify PACD eyes into subgroups based on pre-LPI SS-OCT parameters.

Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a severe motor neuron disease, with most sporadic cases lacking clear genetic causes. Abnormal pre-mRNA splicing is a fundamental mechanism in neurodegenerative diseases. For example, TAR DNA-binding protein 43 (TDP-43) loss of function causes widespread RNA mis-splicing events in ALS.

Exosomes: The endogenous nanomaterials packed with potential for diagnosis and treatment of neurologic disorders.

Neurologic disorders (NDs) are serious diseases that threaten public health. However, due to the complex pathogenesis and significant individual differences in traditional treatments, specific treatment methods for NDs are still lacking. Exosomes, the smallest extracellular vesicles secreted by eukaryotic cells, are receiving increasing attention in the field of NDs.

Spatial enrichment and genomic analyses reveal the link of NOMO1 with amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a severe motor neuron disease with uncertain genetic predisposition in most sporadic cases. The spatial architecture of cell types and gene expression are the basis of cell-cell interactions, biological function and disease pathology, but are not well investigated in the human motor cortex, a key ALS-relevant brain region. Recent studies indicated single nucleus transcriptomic features of motor neuron vulnerability in ALS motor cortex.

Carbohydrate polymer-based bioadhesive formulations and their potentials for the treatment of ocular diseases: A review.

Eyes are directly exposed to the outer environment and susceptible to infections, leading to various ocular disorders. Local medication is preferred to treat eye diseases due to its convenience and compliance. However, the rapid clearance of the local formulations highly limits the therapeutic efficacy.

Investigation of a Fused in Sarcoma Splicing Mutation in a Chinese Amyotrophic Lateral Sclerosis Patient.

Objective: Genetic mutations of fused in sarcoma ( causing amyotrophic lateral sclerosis (ALS) may disrupt mRNA splicing events. For example, the c.1394-2delA variant was reported in two western ALS patients, but its molecular mechanism is unclear.

Epigenetic Clock Acceleration Is Linked to Age at Onset of Parkinson's Disease.

Background: Aging is the strongest risk factor for Parkinson's disease (PD), which is a clinically heterogeneous movement disorder with highly variable age at onset. DNA methylation age (DNAm age) is an epigenetic clock that could reflect biological aging.

Objectives: The aim was to evaluate whether PD age at onset is associated with DNAm-age acceleration (difference between DNAm age and chronological age).

Features and changes in retinal nerve fiber layer thickness in high myopic ocular hypertension: a 1-year prospective follow-up.

Purpose: To observe the features and changes in peripapillary retinal nerve fiber layer (pRNFL) thickness in highly myopic ocular hypertension (HM-OHT) patients.

Study Design: Prospective observation study.

Methods: Individuals who met the inclusion criteria were recruited into three groups: the healthy high myopia (HM), non-highly myopic ocular hypertension (OHT) and HM-OHT group.

DNA methylation age acceleration is associated with age of onset in Chinese spinocerebellar ataxia type 3 patients.

Spinocerebellar ataxia type 3 (SCA3), also known as Machado Joseph disease (MJD), is a common dominantly inherited ataxia, and has heterogeneous clinical features and variable age of onset, ranging from 10 to 78 years. Repeats variability of ATXN3, HTT, ATN1 and ATXN2 can explain partially but not fully SCA3 age of onset heterogeneity. Aging is a reported modifier of SCA3 severity and closely linked to DNA methylation (DNAm).

Molecular Characteristics and Virulence Gene Analysis of Non-O157 Shiga Toxin-Producing from Cattle in Xinjiang.

Non-O157 Shiga toxin ()-producing (STEC) is recognized as an important human diarrheal pathogen. Cattle are the principal reservoirs of STEC, although other animals can be carriers. Humans are mainly infected by consuming contaminated drinking water or food.

Using phosphate fertilizer to reduce emitter clogging of drip fertigation systems with high salinity water.

Phosphorous (P) fertigation with high salinity water (HSW) drip irrigation would be an effective measure to relieve soil and water pollution caused by the excessive application of P fertilizer, and achieve synergistic saving of both limited fresh water and non-renewable P resources. However, the emitter clogging issues of drip fertigation systems seriously restricts the utilization of this technology. This study proposes an approach to reduce emitter clogging in HSW drip fertigation systems by choosing the appropriate type and concentration of P fertilizer.

[Design of a mini-infrared moxibustion instrument based on carbon fiber].

A mini-infrared moxibustion instrument was developed on the base of carbon fiber heating film. This new type moxibustion instrument integrated the moxibusiton technique of TCM with modern technology. It is composed of a power module, an infrared generator module, a temperature sensor, a display screen and a main control panel.