A5101721945- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Autism Spectrum Disorder Research
- Neurological disorders and treatments
- RNA regulation and disease
- Ubiquitin and proteasome pathways
- Amyotrophic Lateral Sclerosis Research
- Genomic variations and chromosomal abnormalities
- Studies on Chitinases and Chitosanases
- Microtubule and mitosis dynamics
- Hereditary Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Hip and Femur Fractures
- Neurological diseases and metabolism
- RNA and protein synthesis mechanisms
- Cellular transport and secretion
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Lysosomal Storage Disorders Research
- Molecular Biology Techniques and Applications
- Genomics and Chromatin Dynamics
- Congenital heart defects research
- Autophagy in Disease and Therapy
Central South University
2015-2024
Hunan Children's Hospital
2024
Sichuan University
2023
West China Hospital of Sichuan University
2023
Third Xiangya Hospital
2020
Xiangya Hospital Central South University
2020
Abstract Essential tremor is one of the most common movement disorders. Despite its high prevalence and heritability, genetic aetiology essential remains elusive. Up to now, only a few genes/loci have been identified, but these genes not replicated in other families or cohorts. Here we report study cohort 197 Chinese pedigrees clinically diagnosed with tremor. Using comprehensive strategy combining linkage analysis, whole-exome sequencing, long-read whole-genome repeat-primed polymerase...
Abnormal expanded GGC repeats within the NOTCH2HLC gene has been confirmed as genetic mechanism for most Asian patients with neuronal intranuclear inclusion disease (NIID). This cross-sectional observational study aimed to characterise clinical features of NOTCH2NLC-related NIID in China.Patients underwent an evaluation symptoms, a neuropsychological assessment, electrophysiological examination, MRI and skin biopsy.In 247 NIID, 149 cases were sporadic, while 98 had positive family history....
Significance Parkinson’s disease (PD) is the second most common neurodegenerative disorder in world. Several and rare genetic risk variants associated with PD pathogenesis have been identified, predominantly persons of European descent, but contributions to familial are largely unknown for Han Chinese. Here, we present a trio-based study explore association between de novo-altered genes early onset We found that 12 novo mutations were biologically connected each other likely be disease-risk...
To determine whether the GGC repeats in NOTCH2NLC gene contribute to amyotrophic lateral sclerosis (ALS).In this study, 545 patients with ALS and 1,305 healthy controls from mainland China were recruited. Several pathogenic mutations known ALS-causative genes (including C9ORF72 ATXN2) polynucleotide repeat expansions NOP56 AR excluded. Repeat-primed PCR GC-rich performed size NOTCH2NLC. Systematic targeted clinical evaluations investigations, including skin biopsy dynamic electrophysiologic...
A recessive biallelic repeat expansion, (AAGGG)exp , in the RFC1 gene has been reported to be a frequent cause of late-onset ataxia. For cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), genotype was present ~92% cases. This study aimed examine whether pentanucleotide (PNR) related multiple system atrophy (MSA), which shares spectrum symptoms with CANVAS.In this study, we screened pathogenic 5 other PNRs 104 Chinese sporadic adult-onset ataxia unknown aetiology...
Mitochondrial kinase PTEN-induced putative 1 (PINK1) and E3 ubiquitin ligase Parkin function in a common pathway to regulate mitochondrial homeostasis contributing the pathogenesis of Parkinson disease. The carboxyl terminus Hsc70-interacting protein (CHIP) acts as heat shock 70/heat 90 cochaperone mediate folding or an target proteins for degradation. In this study, overexpression Drosophila CHIP suppressed range Pink1 mutant phenotypes flies, including abnormal wing posture, thoracic...
Abstract Posttranslational modifications enhance the functional diversity of proteome by modifying substrates. The UFM1 cascade is a novel ubiquitin‐like modification system. mutations in , its E1 ( UBA5 ) and E2 UFC1 ), have been identified patients with microcephaly. However, pathological mechanisms remain unclear. Herein, we observed disruption Drosophila neuroblasts (NBs) decreased number NBs, leading to smaller brain size. lack ufmylation NBs resulted an increased mitotic index extended...
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by a CGG repeat expansion in 5' untranslated region FMR1 gene. When number repeats exceeds 200, gene becomes hypermethylated and transcriptionally silenced, resulting FXS. Other allelic forms that are studied because their instability or phenotypic consequence include intermediate alleles (45-54 repeats) premutation (55-200 repeats). Normal classified as having <45 repeats. Population screening...
Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder mainly caused by abnormally expanded GGC repeats within the NOTCH2NLC gene. Most patients with NIID show polyneuropathy. Here, we aim to investigate diagnostic electrophysiological markers of NIID.
Abstract NgBR is the Nogo‐B receptor, encoded by NUS1 gene. As contains a C‐terminal domain that similar to cis‐isoprenyltransferase (cis‐IPTase), was speculated stabilize nascent Niemann‐Pick type C 2 (NPC2) facilitate cholesterol transport out of lysosomes. Mutations in were known as risk factors for Parkinson's disease (PD). In our previous study, it shown knockdown Drosophila orthologous gene tango14 causes decreased climbing ability, loss dopaminergic neurons, and dopamine contents....
Background This study aimed to investigate the features of autonomic dysfunction (AutD) in a large cohort patients with neuronal intranuclear inclusion disease (NIID). Methods A total 122 NIID and controls were enrolled. All participants completed Scales for Outcomes Parkinson’s Disease-Autonomic Questionnaire (SCOPA-AUT) genetic screening GGC expanded repeats within NOTCH2NLC gene. underwent neuropsychological clinical assessments. SCOPA-AUT was performed compare AutD between controls. The...
Abstract Background and purpose The role of GGC repeat expansions within NOTCH2NLC in Parkinson's disease (PD) the substantia nigra (SN) dopaminergic neuron remains unclear. Here, we profile a large cohort patients with PD. We also investigate neurodegeneration SN. Methods A total 2,522 diagnosed PD 1,085 health controls were analyzed for by repeat‐primed PCR GC‐rich assay. Furthermore, effects on neurons investigated using recombinant adeno‐associated virus (AAV)‐mediated overexpression 98...
Fragile X associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansion of CGG repeats in the 5' UTR fragile mental retardation 1 (FMR1) gene. Using well-established FXTAS Drosophila model, we performed high-throughput chemical screen using 3200 small molecules. NSC363998 was identified to suppress neurodegeneration riboCGG (rCGG) repeats. Three predicted targets derivative are isopeptidases neddylation pathway and could modulate neurotoxicity rCGG...
Objective There is controversial evidence that FMR1 premutation or “gray zone” (GZ) allele (small CGG expansion, 45–54 repeats) was associated with Parkinson’s disease (PD). We aimed to explore further the association between repeat expansions and PD in a large sample of Chinese origin. Methods included cohort 2,362 patients 1,072 controls from Disease Movement Disorders Multicenter Database Collaborative Network China (PD-MDCNC) this study conducted repeat-primed polymerase chain reaction...
Objective This retrospective cohort study aimed to identify reasons and risk factors associated with 30-day readmission after otolaryngology-head neck surgery propose preventive measures. Design The was conducted at a large single academic tertiary care center in China, analyzing cases of inpatient from August 2019 December 2021. Setting tertiary-care hospital China. Participants included adult patients who underwent experienced readmissions. Main outcome measures main measured the analysis...