Ask about this productRelated genes to: Aldh4a1 antibody
- Gene:
- ALDH4A1 NIH gene
- Name:
- aldehyde dehydrogenase 4 family member A1
- Previous symbol:
- ALDH4
- Synonyms:
- P5CDh
- Chromosome:
- 1p36.13
- Locus Type:
- gene with protein product
- Date approved:
- 1998-11-24
- Date modifiied:
- 2018-02-26
Related products to: Aldh4a1 antibody
Related articles to: Aldh4a1 antibody
- Epilepsy and thyroid cancer are prevalent disorders with distinct etiologies; however, emerging evidence suggests the presence of shared molecular mechanisms that remain largely unexplored. In this study, we aimed to identify and characterize common hub genes and potential diagnostic markers linking these two conditions using comprehensive in silico and in vitro approaches. Differentially expressed genes (DEGs) were analyzed from epilepsy datasets (GSE44456, GSE186334) and thyroid cancer datasets (GSE60542, GSE153659), leading to the identification of four shared hub genes: CD44, CALCOCO2, ALDH4A1, and CLEC16A. Expression validation using RT-qPCR confirmed consistent patterns, with CD44 and CLEC16A significantly upregulated and CALCOCO2 and ALDH4A1 downregulated in disease cell lines compared to controls. Receiver operating characteristic (ROC) curve analysis demonstrated strong diagnostic potential for these genes in both diseases, with area under the curve (AUC) values exceeding 0.90. Functional enrichment and pathway analyses revealed that these genes are involved in oncogenic signaling, immune regulation, and tumor progression. Genetic alteration analysis indicated frequent mutations and copy number variations, while promoter methylation profiling suggested epigenetic regulation associated with disease outcomes. Survival analysis further identified ALDH4A1 and CLEC16A as prognostic markers. Moreover, in vitro and in vivo experiments demonstrated that CD44 and CLEC16A regulate cellular proliferation, migration, and clonogenicity through extracellular matrix (ECM)-receptor interactions involving CCL5, STAT3, CXCR4, and RAC1 signaling pathways. Collectively, these findings provide new insights into the shared molecular landscape of epilepsy and thyroid cancer, highlighting potential diagnostic biomarkers and therapeutic targets. - Source: PubMed
Publication date: 2026/04/08
Wang Si YingLiu TianyuZhang DechunLiu WeixuanQian MengLi RongfangYu Liu ZhenWu Pei - Certain human mutations in the mitochondrial aldehyde dehydrogenase 4A1 (ALDH4A1) lead to a severe, paediatric form of epilepsy and developmental abnormalities, yet the precise molecular mechanism leading to the clinical phenotypes remains unexplained. ALDH4A1 metabolizes glutamic-γ-semialdehyde (GSA). Mutations in ALDH4A1, which lead to inactive enzyme variants, cause GSA to accumulate and vitamin B6 inactivation. Patients with severe ALDH4A1 deficiency have paediatric epilepsy and are resistant to prescribed therapies. We develop knock-in cell culture and mouse models of the S352L variant to help characterize this human pathology. The knock-in models show that ALDH4A1 is necessary for clearing a non-canonical substrate, 4-hydroxynonenal (4-HNE), without becoming inactivated, like the main clearance mechanism of 4-HNE, ALDH2, and that ALDH4A1 deficiency alters transcriptional profiles in genes that regulate brain development, including LGI1 and FOXB1. Protein levels, including those in the proline metabolic pathway (e.g., spermine synthase), are also downregulated in both S352L iPSCs and the brains of S352L homozygous mice. This work identifies additional metabolic and transcriptional pathways regulated by ALDH4A1, and potential pathways that can be targeted to treat patients with ALDH4A1 deficiency. - Source: PubMed
Publication date: 2026/03/14
Kraemer Benjamin RHeo GwangbeomChen Che-HongMochly-Rosen Daria - Hyperprolinemia type II (HPII) is a rare inherited metabolic disorder caused by the gene variant. Herein, we report a case of a preschool-aged Saudi girl who was born from consanguineous parents and presented with global developmental delay. The patient was clinically diagnosed with autism spectrum disorder with associated disruptive behaviors. Metabolic investigations revealed markedly elevated plasma and urinary proline levels, suggestive of a proline metabolism disorder. Whole-exome sequencing identified a homozygous variant of uncertain significance in the gene, which is associated with autosomal recessive HPII. Genetic testing of the patient's family members showed that all individuals had carrier status with varying zygosity. This case underscores the importance of metabolic and genetic evaluation in children with neurodevelopmental disorders and highlights that HPII can present with a clinical phenotype that overlaps substantially with ASD. - Source: PubMed
Publication date: 2026/01/12
AlQurashi Faisal OAlawam Bashayer SAlhaddad BaderAlrebh Zahra A - Ulcerative colitis (UC) is characterized by chronic mucosal inflammation, oxidative stress, and disruption of intestinal metabolic homeostasis. Immunomodulatory nutrients such as arginine, glutamine, and β-hydroxy β-methylbutyrate (HMB) have shown potential benefits; however, their combined molecular effects on UC remain insufficiently defined. - Source: PubMed
Publication date: 2026/01/09
Yılmaz Akyüz ElvanAkyüz CebrailYenilmez Tunoglu Ezgi NurdanDogan MeryemBayram BanuTutar Yusuf - Atherosclerosis (AS) is a primary contributor to cardiovascular disease (CVD), resulting in high mortality. Ferroptosis, triggered by lipid peroxidation, contribute to AS development. This study aimed to explore the regulatory relationships of Trim28, ALDH4A1, P53, and ferroptosis in the pathogenesis of AS. The AS cell model was constructed by treating HUVECs with oxidized low-density lipoprotein (ox-LDL). The roles of Trim28 overexpression in regulating AS development, P53 ubiquitination, and ferroptosis of vascular endothelial cells were investigated. Moreover, the interaction between Trim28 and ALDH4A1 was explored, followed by analyzing the effect of ALDH4A1 knockdown on P53 ubiquitination. Additionally, the impact of ALDH4A1 knockdown and P53 overexpression on AS development and ferroptosis of vascular endothelial cells was explored. Reduced Trim28 expression and increased ALDH4A1 and P53 expression were observed in HUVECs after treatment with ox-LDL. Overexpression of Trim28 mitigated AS development, promoted P53 ubiquitination, and suppressed ferroptosis of vascular endothelial cells. Additionally, ALDH4A1 could interact with Trim28, and ALDH4A1 knockdown enhanced P53 ubiquitination. Moreover, P53 overexpression reversed the inhibitory effects of ALDH4A1 knockdown on AS development and ferroptosis of vascular endothelial cells. Our findings indicate that Trim28, ALDH4A1, and P53 may be key regulators in AS development. Silencing of ALDH4A1 may alleviate AS development through regulating Trim28-mediated P53 ubiquitination to inhibit ferroptosis of vascular endothelial cells. These molecules may by promising therapeutic targets for AS and related CVD. - Source: PubMed
Publication date: 2025/08/13
Xu XiaoyongXu XiaorongZhou WangzhuoWang WenwenLin BinHuang XumeiChen Shan