Ask about this productRelated genes to: ALDH5A1 Blocking Peptide
- Gene:
- ALDH5A1 NIH gene
- Name:
- aldehyde dehydrogenase 5 family member A1
- Previous symbol:
- -
- Synonyms:
- SSADH, SSDH
- Chromosome:
- 6p22.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-06-11
- Date modifiied:
- 2016-10-05
Related products to: ALDH5A1 Blocking Peptide
Related articles to: ALDH5A1 Blocking Peptide
- The present study aims to identify key genes and elucidate the molecular mechanisms underlying osteonecrosis of the femoral head (ONFH), with the goal of discovering effective diagnostic and therapeutic targets. Microarray data were sourced from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were identified using the Limma method. Feature genes were selected through Support Vector Machine, Random Forest and Least Absolute Shrinkage and Selection Operator algorithms. Diagnostic performance was assessed using receiver operating characteristic (ROC) analysis. Functional enrichment and immune infiltration analyses were performed. Experimental validation included RT-qPCR, western blotting and immunofluorescence in ONFH bone tissue. Additionally, a competing endogenous RNA (ceRNA) network was constructed using Cytoscape (v3.10.1). A total of 51 DEGs were identified, comprising 33 downregulated and 18 upregulated genes. Aldehyde dehydrogenase 5 family member A1 (ALDH5A1) consistently emerged as a key gene across all machine learning models, demonstrating high diagnostic value according to ROC analysis. Enrichment analysis indicated that ALDH5A1-related DEGs were predominantly involved in 'Toll-like receptor signaling', 'RIG-like receptor signaling', 'Leishmania infection' and 'Cytosolic DNA sensing'. Immune analysis revealed associations between ONFH and HLA/MHC-I molecules, neutrophils and regulatory T cells, with ALDH5A1 showing a negative correlation with activated CD4 memory T cells. Experimental validation confirmed significant downregulation of ALDH5A1 in ONFH samples. Overall, ALDH5A1 represents a promising prognostic biomarker and potential therapeutic target for ONFH. The interaction between immune cells and the ceRNA network may play a critical role in the pathogenesis of ONFH, providing valuable insights for molecular mechanisms and clinical intervention strategies. - Source: PubMed
Publication date: 2026/03/24
Ren TianyuQin QingfaPang LiZheng XifanHuang JunpuMeng JinzhiQiu YueLi ZemingYao Jun - Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive metabolic disorder due to loss-of-function mutations impairing the catabolism of γ-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain. In SSADHD, pathologic accumulation of GABA and its metabolic by-product γ-hydroxybutyrate (GHB) corresponds to a clinical syndrome dominated by developmental delay and epilepsy in half of patients with risk of sudden death in adolescence and adulthood. Brain-wide gene replacement for SSADHD is unavailable, and whether such treatment will reverse the SSADHD phenotype is unknown. We developed an inducible mouse SSADHD model, , enabling Cre-dependent restoration to evaluate gene therapy feasibility. In the absence of SSADH, mice exhibit hyperactivity and excessive serum GHB levels, culminating in death by ∼postnatal day 22, recapitulating the severe SSADHD condition. Systemic delivery of a blood-brain barrier (BBB)-penetrating adeno-associated virus (AAV) carrying a gene to mice leads to brain-wide SSADH restoration, serum GHB level reduction, normalization of hyperactivity, and substantial increase in survival. As a step toward clinical translation, we further assessed an AAV encompassing a functional native promoter (FLnP) of tethered to its human coding sequence, namely AAV-FLnP-hALDH5A1. mice were effectively rescued when treated with AAV-FLnP-hALDH5A1 packaged in the blood-brain barrier (BBB)-penetrating capsid PHP.eB. These findings provide preclinical proof that SSADH gene replacement therapy is feasible and potentially effective. - Source: PubMed
Publication date: 2026/03/26
Lee Henry H CMcGinty GabrielleLiebhardt AmandaZhang ZiheWelzel BjörnVermudez Sheryl Anne DArning ErlandLin RuiNguyen MinhCakici DidemYu TimothyWoolf Clifford JPearl Phillip LGao GuangpingSahin MustafaRotenberg Alexander - Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder with diverse clinical manifestations, in which aberrant Th17 cell differentiation plays a critical pathogenic role and contributes to the persistent challenges in its treatment. We performed a bioinformatics analysis using RNA sequencing (RNA-seq) data obtained from the GEO database, with the aim to identify genes with altered expression during SLE progression that may be associated with Th17 cell differentiation. Our analysis identified 12 glutamine metabolism-related genes (GlnMRGs) and constructed a nomogram to indicate the risk of SLE. Among the GlnMRGs, ALDH5A1 is the highest-scoring gene in the random forest (RF) model. In patients with SLE, the expression of ALDH5A1 in the peripheral blood was reduced, and it was inversely correlated with the Th17 immune score (r = -0.51) and negatively correlated with SLEDAI score (r = -0.2066, p < 0.001). Additionally, single-cell RNA sequencing (scRNA-seq) confirmed that the expression of ALDH5A1 was downregulated specifically in Th17 cells. To validate these conclusions, we performed verification in SLE patients and pristane-induced mouse models. Additionally, we performed in vitro assays using small interfering RNA (siRNA) and overexpression plasmids. The functional findings confirmed that Aldh5a1 knockdown aggravated the activation, proliferation, and Th17 differentiation of CD4 T cells, while overexpression of Aldh5a1 suppressed this phenomenon. Collectively, our findings suggest that ALDH5A1 may influence Th17 differentiation and play a role in the pathogenesis of SLE. - Source: PubMed
Yu HuiSu SensenMa ZhanchuanXu ZhengYi Huanfa - Hereditary neurodegenerative diseases occur in dogs, and a molecular diagnosis can be of value for treatment and prevention. - Source: PubMed
Schofield EllenButler ThomasGonçalves RitaPettitt LouiseWyatt SophieJenkins Christopher ADe Frias Joao MiguelMcLaughlin BryanPilkington EdOrlandi RocioMellersh Cathryn SFreeman PaulPrunty HelenRicketts Sally LHarris Georgina - Evidence suggests that prenatal exposure to antiseizure medications (ASMs) may be associated with an increased risk of autism spectrum disorder (ASD) in offspring. However, the risks attributable to specific ASMs and the underlying biological mechanisms remain incompletely characterized. - Source: PubMed
Publication date: 2026/02/17
Meng QiuxiaoXie JiahanYang LiYu KefuZhu BinLi CaoZhao ZhigangHuo Jiping