APTX
- Known as:
- APTX
- Catalog number:
- 001803A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- APTX
Related genes to: APTX
- Gene:
- APTX NIH gene
- Name:
- aprataxin
- Previous symbol:
- AXA1
- Synonyms:
- FLJ20157, AOA, AOA1, EAOH, EOAHA
- Chromosome:
- 9p21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-07-16
- Date modifiied:
- 2016-10-05
Related products to: APTX
Related articles to: APTX
- Ataxia with oculomotor apraxia type 1 (AOA1), caused by mutations in the DNA repair protein aprataxin (APTX), leads to progressive neurodegeneration. In this study, we established an AOA1 patient-derived induced pluripotent stem cell (iPSC) and a neuronal differentiation model. We demonstrated that AOA1-derived neurons exhibit neurite morphology and maturation defects correlated with the accumulation of DNA single-strand break (SSB) signals. AOA1-derived neurons showed greater DNA-damage and PAR signals together with lower protein-normalized NAD(H) and ATP after genotoxic exposure. These parallel changes are consistent with metabolic stress but do not establish a PARP1-dependent causal pathway. Bulk transcriptomic profiling and alternative splicing (AS) analysis further revealed widespread transcriptomic dysregulation and altered AS events, particularly enriched in neuronal genes essential for neurite development and synaptic function. Collectively, our findings identify neuronal differentiation, DNA-damage, metabolic, and transcriptomic differences in AOA1 patient-derived cultures and motivate composition-controlled and rescue-based studies of APTX function. - Source: PubMed
Publication date: 2026/08/20
Chen ZiruiHuang YihuaHu XinyueYuan ZhirongWang LuqinXu KaibiaoJiang YaweiPan YueChen YangkunLiu JingHu Yafang
- Source: PubMed
- Neuropsychiatric disorders exhibit complex polygenic architectures, yet the cell-type-specific mechanisms underlying most risk loci remain unclear. Here, we integrate single-cell expression quantitative trait locus (sc-eQTL) data from brain and blood tissues with genome-wide association studies (GWAS) of six neuropsychiatric disorders (schizophrenia (SCZ), Parkinson's disease (PD), bipolar disorder (BP), major depressive disorder (MDD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD)) to systematically identify putative causal genes at cellular resolution. Employing summary-data-based Mendelian randomization (SMR) across diverse neuronal and immune cell types, we discovered 345 cell-type-specific risk genes for various diseases, including both replicated candidates (such as MAPT in astrocytes for SCZ and PD and FLOT1 in excitatory neurons and inhibitory neurons for SCZ, BP and MDD) and novel associations (such as APTX in microglia for SCZ). Cross-disorder analyses revealed shared pathways in synaptic function and immune regulation. In contrast, disease-specific and tissue-specific patterns were observed across different disorders. Strikingly, we found that brain-derived risk genes exhibited significantly higher cell-type specificity than those identified in blood, underscoring the more focused cellular context of genetic effects in the central nervous system. Our findings suggest that neuropsychiatric disorders arise from a combination of neuronal dysfunction and immune system dysregulation. The study demonstrates how cell-type-specific mapping uncovers etiological mechanisms obscured in bulk-tissue analyses, proving novel information for clarifying the biological mechanism of gene expression implicated in the development of the six neuropsychiatric disorders. - Source: PubMed
Publication date: 2026/04/22
Wang XinyueLuo LingxueChang SuhuaYang Li - Poly(ADP-ribose) polymerases 1 and 2 (PARP1/PARP2), and poly(ADP-ribose) glycohydrolase (PARG), modulate the level of poly(ADP-ribose) (PAR), a post-translational protein modification, in response to DNA damage or replication stress. Here, we find that replication-dependent and PARP1/PARP2-mediated PARylation recruits the base excision repair (BER)/single-strand break repair (SSBR) scaffold protein XRCC1 and the associated factors DNA polymerase β (POLB), aprataxin (APTX), and DNA ligase isoform 3 (LIG3). Further, these BER/SSBR proteins promote resistance to inhibitors of PARP1/PARP2 and PARG, as loss of these proteins sensitizes glioblastoma and ovarian cancer cells to each. In addition, depletion of these replication-associated BER/SSBR factors leads to enhanced PAR levels and PARG inhibitor-induced activation of the ATR/CHK1 S-phase checkpoint kinases. Both PARG inhibition and ATR inhibition lead to elevated ATM- and DNA-PK-dependent KAP1 phosphorylation. In turn, inhibition of either ATR or CHK1 enhances the cellular response to PARG inhibitors. Finally, inhibition of the ATR regulators PRMT1 or PRMT5 synergizes with PARG inhibition, implicating replication-associated BER/SSBR and PARylation in the activation of the PRMT1/PRMT5/ATR axis. This study highlights the role of BER/SSBR in protecting the cell during S-phase to suppress PARylation-induced checkpoint activation, which may suggest a potential intervention strategy for PARG inhibitor-resistant tumors. - Source: PubMed
Publication date: 2025/12/31
Ibrahim MdRoos Wynand PSchwartz Jacob CKhan Md MarufAl-Rahahleh Rasha QBeers Libby APearson Charlotte RLangham Kahrie TBoyang LouisClark JenniferHayat FaisalFang QingmingKoczor Christopher AMigaud Marie ESobol Robert W - Exome sequencing solved 26% of nephronophthisis cases, identifying nephropathy and extrarenal disease genes beyond classic ciliopathy panels. Exome sequencing uncovered GN and tubular nephropathy genes misdiagnosed as ciliopathy-associated nephropathy, underscoring diagnostic overlap in kidney diseases. Patients with nonciliary genetic variants may present with ciliopathy-like extrarenal symptoms, showing phenocopies in kidney ciliopathy diagnostics. - Source: PubMed
Publication date: 2025/12/04
Petzold FriederikeJeanpierre CécileChen XiaoyiMorinière VincentBenmerah AlexandreDorval GuillaumeSaei HassanHeidet LaurenceAntignac CorinneSaunier Sophie