Publications by authors named "Xiang-Qian Che"
Over the past decades, the immune responses have been suspected of participating in the mechanisms for epilepsy. To assess the immune related pathway in temporal lobe epilepsy (TLE), we explored the altered immune pathways in TLE patients with and without hippocampal sclerosis (HS). We analyzed RNA-seq data from 3 TLE-HS and 3 TLE-nonHS patients, including identification of differentially expressed RNA, function pathway enrichment, the protein-protein interaction network and construction of ceRNA regulatory network.
View Article and Find Full Text PDFGenetic and Neuroimaging Analysis of SIGMAR1 for Frontotemporal Dementia.
J Alzheimers Dis
September 2023
Article Synopsis
- - The study investigates the role of SIGMAR1 gene variants in frontotemporal dementia (FTD) independently of the C9orf72 pathogenic repeat expansions, which have been linked to some FTD cases.
- - Researchers sequenced the SIGMAR1 gene in 82 sporadic FTD patients and 417 controls, finding a rare variant in a male patient with semantic dementia and notable brain imaging results.
- - The findings suggest that the identified SIGMAR1 variant may influence disease progression by affecting RNA splicing, potentially contributing to the semantics-related symptoms of dementia.
Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel Mutation Exhibits Aberrant Protein Palmitoylation.
Front Aging Neurosci
April 2022
Article Synopsis
- * Adult-onset NCL (ANCL) is linked to specific gene mutations, including L115R, L116Δ, and C124_C133dup.
- * A new study identified a novel C128Y mutation in a young Chinese female with ANCL, causing abnormal palmitoylation and leading to the formation of lipofuscin deposits.
Background: In addition to the increasing evidence for a molecular mechanism of rho kinase 1 () in Alzheimer's disease (AD), there are several published studies regarding the relationship between gene polymorphisms and neurological diseases. However, it is unknown whether there is an association between the polymorphisms of and AD. We sought to identify the potential association between gene polymorphisms and AD in the Chinese Han population.
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- CHCHD2 is a multifunctional protein linked to mitochondrial metabolism and has been identified as a gene associated with Parkinson's disease (PD).
- The study sequenced the CHCHD2 gene in 150 Alzheimer's disease (AD) patients, 84 frontotemporal dementia (FTD) patients, and 417 controls.
- Four rare variants of the CHCHD2 gene were found in the AD and FTD patient groups, indicating that this gene may also play a significant role in other neurodegenerative disorders.
Precision medicine of frontotemporal dementia: from genotype to phenotype.
Front Biosci (Landmark Ed)
January 2018
Frontotemporal dementia (FTD) is the second most common neurodegenerative cause of early-onset dementia. FTD has an important genetic component contributing to its pathogenic mechanisms. Currently, extensive research on neuroimaging biomarkers and neurochemical biomarkers in FTD is being conducted to address the clinical need for a sensitive and specific diagnostic marker.
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- This study examines the genetic factors associated with frontotemporal dementia (FTD) in Chinese patients, focusing on mutations in the MAPT, GRN, C9orf72, and CHCHD10 genes.
- Researchers analyzed samples from 82 sporadic FTD patients using direct sequencing and repeat-primed PCR, comparing findings with 400 control subjects.
- They identified one known pathogenic variant and several novel mutations in MAPT, GRN, and CHCHD10, suggesting that these genes may play a significant role in the genetic causes of FTD among the Chinese population, with 4.9% of patients showing identifiable genetic mutations.
Proline-rich transmembrane protein 2 gene (PRRT2) mutations are reported to cause common paroxysmal neurological disorders and show a remarkable pleiotropy. Benign epilepsy with centrotemporal spikes (BECTS) is considered to be the most common epilepsy syndrome in childhood. It is placed among the idiopathic localization related epilepsies.
View Article and Find Full Text PDFParoxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
Neurology
November 2015
Objective: We aimed to investigate the clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) in a large population and to analyze the genotype-phenotype correlation of PKD.
Methods: We analyzed clinical manifestations and conducted PRRT2 screening in 110 patients with PKD. Clinical data were compared between 91 probands with and without PRRT2 mutations.
The BAG2 and BAG5 proteins inhibit the ubiquitination of pathogenic ataxin3-80Q.
Int J Neurosci
May 2015
The expansion of a polyglutamine domain in the protein ataxin3 causes spinocerebellar ataxia type-3 (SCA3). However, there is little information to date about the upstream proteins in the ubiquitin-proteasome system of pathogenic ataxin3-80Q. Here, we report that BAG2 (Bcl-2 associated athanogene family protein 2) and BAG5 (Bcl-2-associated athanogene family protein 5) stabilise pathogenic ataxin3-80Q by inhibiting its ubiquitination as determined based on western blotting and co-immunofluorescence experiments.
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