ATP7A antibody - N-terminal region (ARP33797_T100)
- Known as:
- ATP7A (anti-) - N-terminal region (ARP33797_T100)
- Catalog number:
- arp33797_t100
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- ATP7A antibody - N-terminal region (ARP33797_T100)
Related genes to: ATP7A antibody - N-terminal region (ARP33797_T100)
- Gene:
- ATP7A NIH gene
- Name:
- ATPase copper transporting alpha
- Previous symbol:
- MNK
- Synonyms:
- -
- Chromosome:
- Xq21.1
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2016-02-10
Related products to: ATP7A antibody - N-terminal region (ARP33797_T100)
Related articles to: ATP7A antibody - N-terminal region (ARP33797_T100)
- Menkes disease (MD) is an uncommon, X-linked recessive neurodegenerative disorder caused by mutations in the copper-transporting gene, leading to defective copper metabolism. Progressive neurological dysfunction, connective tissue abnormalities, characteristic skeletal and hair findings are defining features of the disease. The prognosis of the classical variant is poor since the majority of patients expire by the age of 3 years. This report presents the first documented case of MD in the Kingdom of Bahrain with a novel variant. - Source: PubMed
Publication date: 2026/06/09
Hadi YusufKhawaja NaderBen Turkia HadhamiNasef MinooshBaili Sarra - Mild cognitive impairment (MCI), a condition that falls somewhere between normal aging and severe cognitive dysfunction (e.g., Alzheimer's disease), is a common manifestation of the neurocognitive function decline that seniors encounter as they age. The fundamental processes causing its beginning are still not well understood yet. - Source: PubMed
Publication date: 2026/05/13
Wang BoZhang JingLi Chang-HongHuang XiaoGao Ruo-BingPeng YanXie QingNing Ya-LeiZhao YanYang NanChen XingXie Yang-LiZhou Yuan-GuoLin SenChen LinLi Ping - Genetic variants in ATP7A are associated with a spectrum of X-linked copper metabolism disorders. Menkes disease (MD) is the most severe form of ATP7A-related disorders, characterized by severe central nervous system degeneration and connective tissue abnormalities. Intractable epilepsy is a hallmark of MD, typically progressing through epileptic spasms resistant to antiseizure drugs. Here, we report a severe case of MD with a novel splice variant (c.2782-3T>G) that was successfully treated with perampanel. Case presentation: The patient developed epileptic spasms during early infancy and his initial electroencephalography revealed hypsarrhythmia. As his seizures were refractory to many antiseizure drugs and thyrotropin-releasing hormone therapy, he underwent adrenocorticotropic hormone therapy; however, this treatment was ineffective and caused various side effects. Eventually, perampanel was initiated, resulting in the cessation of seizures and improvement in electroencephalography findings. Discussion: This is the first reported case of MD successfully treated with perampanel, suggesting that perampanel may be a potential therapeutic option for intractable epilepsy with MD. Splice-site and intronic variants reportedly are more prevalent in milder forms of ATP7A-related disorders. The novel splice variant identified in the present case expands the understanding of intronic variation in ATP7A-related disorders. - Source: PubMed
Publication date: 2026/05/28
Yoshida HiroakiKondo HidehitoYano NaokoYoshida Takeshi - Recently, copper (Cu)-based cancer therapy, an intracellular Cu-dependent process, has received tremendous attention because of the emergence of cuproptosis. However, the inherent regulatory mechanism limits intracellular Cu accumulation. Herein, a carrier-free GSH-responsive nanoreactor (TECJ) is fabricated, of which Cu ionophore elesclomol (ES), GSH-responsive nitric oxide (NO) donor O-(2,4-dinitrophenyl) 1-[(4-ethoxycarbonyl) piperazin-1-yl] diazen-1-ium-1,2-diolate (JSK) and Cu are integrated self-assembly and coated with D-α-tocopherol polyethylene glycol 1000 succinate (TPGS). TECJ enhances the systemic stability and tumor accumulation of ES and JSK through both the coating function and the additional inner force provided by TPGS. After internalization, TECJ specifically releases the cargoes GSH-responsive dissociation. Then, ES efficiently transports extracellular Cu into the cytoplasm for Cu influx, while NO released from JSK aggravates mitochondrial dysfunction and blocks adenosine triphosphate supply to inhibit ATP7A expression and reduce Cu efflux, therefore dually resulting in Cu-overload and amplifying cuproptosis. Furthermore, Cu-induced Fenton-like reaction together with TPGS-mediated ROS generation triggers chemodynamic therapy (CDT), and NO transfers ROS into more toxic ONOO for accelerating tumor death while reducing tumor self-alleviation by inhibiting DNA repair. Afterwards, the process above synergistically activates immunogenic cell death and cascades immunotherapy. Finally, TECJ successfully suppresses tumor growth and prevents tumor metastasis. - Source: PubMed
Publication date: 2026/05/12
Hu YuhanZhou QifanWen HaitongHuang TianyiLiu YongqingLiu YeJin XinLu XiaoyuWu Hangyi - Idiopathic pulmonary fibrosis (IPF) remains a fatal disease due to apoptosis-resistant myofibroblasts driving pathological extracellular matrix deposition. Current therapies fail to directly eliminate these cells, and cuproptosis-a copper-dependent cell death pathway-remains unexplored in pulmonary fibrosis. - Source: PubMed
Publication date: 2026/05/21
Yang YoujingLi JianzhongJiang TingLi QianminLing YiTang FengjieFeng YanmeiXiao JunMa YuTao Shasha