VPS35, the core component of the retromer complex, and Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disease that is common in middle-aged and elderly people, and its onset is related to multiple factors, such as heredity, environment, and age. The vesicle protein sorting 35 (VPS35) gene was found to be a late-onset autosomal dominant familial PD (PARK17) causative gene. The protein encoded by this gene is located in the endosome and aggregates with other membrane proteins to form a retromer complex, which participates in the membrane protein cycle between the endosome and the Golgi network.

Genetic study of a Chinese pedigree with early onset Parkinson's disease caused by novel compound heterozygous mutations in gene.

Objective: To explore the genetic basis for a Chinese pedigree where two siblings were affected with early-onset Parkinson's disease (EOPD).

Methods: Clinical examinations and genomic analyses were performed on five subjects belonging to two generations of a Han Chinese family. Target regions capture and high throughput sequencing were used to screen these genes associated with Parkinson's disease (PD), tremor, spinocerebellar ataxia, and dystonia.

Utility of Point-of-Care Lung Ultrasound for Clinical Classification of COVID-19.

In this study, the utility of point-of-care lung ultrasound for clinical classification of coronavirus disease (COVID-19) was prospectively assessed. Twenty-seven adult patients with COVID-19 underwent bedside lung ultrasonography (LUS) examinations three times each within the first 2 wk of admission to the isolation ward. We divided the 81 exams into three groups (moderate, severe and critically ill).

SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity.

Post-translational modification by SUMO was proposed to modulate the pathogenesis of several neurodegenerative diseases. Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease caused by polyQ-expanded ataxin-3. We have previously shown that ataxin-3 was a new target of SUMOylation in vitro and in vivo.

Value of segmental myocardial strain by 2-dimensional strain echocardiography for assessment of scar area induced in a rat model of myocardial infarction.

Objectives: Two-dimensional strain echocardiography (2DSE) technique has enabled accurate quantification of regional myocardial function. This experimental study was aimed to investigate the value of 2DSE in detection of segmental regional myocardial dysfunction induced by fibrosis following myocardial infarction in a small animal (rat) model.

Methods: A rat model of myocardial infarction was established by ligation of the proximal left anterior descending coronary artery in 17 SD rats.

[Metabolic pathways of OGCP and the influence of parkin protein on the metabolism of OGCP].

Objective: To study the metabolic pathways of 2-oxoglutarate carrier protein (OGCP)and the influence of parkin protein on the metabolism of OGCP.

Methods: The OGCP metabolic pathways were identified through inhibiting proteasome activities with specific proteasome inhibitors and protease inhibitors. The isotope pulse-chase experiments were performed to measure the turnover rate of OGCP and to study the influence of parkin protein on the metabolism of OGCP.

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

Background: Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a clinically and genetically heterogeneous neurodegenerative disorder with genetic linkage to multi-loci. Recently pathogenic mutations in the KIAA1840 (now named SPG11) for SPG11, the major HSP-TCC locus, were identified; at least 42 different mutations have been detected.

Objective: To study the clinical features and identify the SPG11 gene mutations in Chinese patients with HSP-TCC.

[Clinical study on effect of Jianwei Yuyang Granule in treating patients with gastric ulcer].

Objective: To observe the clinical effects of Jianwei Yuyang Granule (JYG) in treating patients with gastric ulcer and its influence on interleukin-1beta (IL-1beta) and basic fibroblast growth factor (bFGF) mRNA expression in gastric mucosa for exploring the therapeutic mechanism.

Methods: Fifty-six patients with confirmed gastric ulcer unader gastroscope and differentiated as Gan-stagnant Pi-deficient syndrome were randomly assigned to two groups, the treated group (26 cases) treated with JYG and the control group (30 cases) treated with famotidine and sucralfate, 4 weeks as one therapeutic course. The changes before and after treatment in clinical compliance, symptom integral, ulcer-healing rate, clinical effective rate, and HP-clearance rate were observed.

[Frequency of different subtypes of spinocerebellar ataxia in the Han nationality of Hunan province in China].

Objective: To determine the frequency of different subtypes of spinocerebellar ataxias (SCAs) in the Han nationality of Hunan province in China.

Methods: The mutations of SCA1, SCA2, SCA3, SCA6, SCA7, SCA17, and dentatorulral-pallidoluysian (DRPLA) were detected with the polymerase chain reaction (PCR), denaturing polyacrylamide gel and DNA sequencing techniques in 139 autosomal dominant SCA families and 61 sporadic SCA patients.

Results: Of the 139 families, 11 (7.

[Clinical characteristics and molecular biology of hereditary spinocerebellar ataxia type 7: study of 3 Chinese families].

Objective: To study the clinical characteristics and molecular biology of hereditary spinocerebellar ataxia type 7 (SCA7).

Methods: Peripheral blood samples were collected from 245 with autosomal dominant SCA from 184 families and 71 sporadic SCA patients. Polymerase chain reaction, polyacrylamide gel electrophoresis, and capillary electrophoresis technique were used to detect the SCA7 (CAG) n trinucleotide repeat mutations.