ATP7B x ATPase x P-type ATPases x ATP7A x ATP7

Last update 08 May 2025

Basic Info

Related Targets

ATP7BATPaseP-type ATPases[+2]

Drugs associated with ATP7B x ATPase x P-type ATPases x ATP7A x ATP7

US20250017889

Patent Mining

Target

ATP7 x ATP7A x ATP7B x ATPase x P-type ATPases

Mechanism-

Active Org.

The Curators of the University of Missouri

Originator Org.

The Curators of the University of Missouri

Active Indication

Alzheimer Disease [+7]

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with ATP7B x ATPase x P-type ATPases x ATP7A x ATP7

100 Translational Medicine associated with ATP7B x ATPase x P-type ATPases x ATP7A x ATP7

0 Patents (Medical) associated with ATP7B x ATPase x P-type ATPases x ATP7A x ATP7

313

Literatures (Medical) associated with ATP7B x ATPase x P-type ATPases x ATP7A x ATP7

01 Apr 2025·Neural Regeneration Research

Role of copper in central nervous system physiology and pathology

Article

Author: Locatelli, Martina ; Farina, Cinthia

Copper is a transition metal and an essential element for the organism, as alterations in its homeostasis leading to metal accumulation or deficiency have pathological effects in several organs, including the central nervous system. Central copper dysregulations have been evidenced in two genetic disorders characterized by mutations in the copper-ATPases ATP7A and ATP7B, Menkes disease and Wilson’s disease, respectively, and also in multifactorial neurological disorders such as Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis, and multiple sclerosis. This review summarizes current knowledge about the role of copper in central nervous system physiology and pathology, reports about unbalances in copper levels and/or distribution under disease, describes relevant animal models for human disorders where copper metabolism genes are dysregulated, and discusses relevant therapeutic approaches modulating copper availability. Overall, alterations in copper metabolism may contribute to the etiology of central nervous system disorders and represent relevant therapeutic targets to restore tissue homeostasis.

01 Apr 2025·Molecular Genetics and Metabolism

Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant

Article

Author: Debby, Asaf ; Keidar, Tal ; Yardeni, Tal ; Kaniganti, Tarun ; Weiss, Ron ; Manor, Joshua ; Grinberg, Igor ; Venkataraman, Lalitha ; Kaler, Stephen G ; Zarbib, Yarden Haham ; Gean-Akriv, Galit ; Polak-Charcon, Sylvie ; Ollech, Ayelet ; Levy-Shraga, Yael

Adaptor protein (AP) complexes play key roles in escorting transmembrane proteins to various intracellular destinations, including the trans-Golgi compartment, secretory vesicles, and the plasma membrane. The AP-1 complex is heterotetrametric, comprised of four individual subunits: β1, γ1, σ1, and μ1, and encoded by separate genes that interact selectively with distinct cargo proteins. When AP-1 complex assembly is impaired due to loss-of-function variants in any of its component genes, clinical consequences related to altered transmembrane protein trafficking may result. Biallelic pathogenic variants in the β1 subunit (AP1B1) are associated with a unique clinical phenotype including keratitis, ichthyosis, and deafness with autosomal recessive inheritance, the KIDAR syndrome. This disorder is further characterized by enteropathy, failure to thrive, neurodevelopmental delays, endocrinopathies, and abnormalities in copper (Cu) metabolism, the latter reflecting impact on intracellular trafficking of two transmembrane Cu-transporting ATPases, ATP7A and ATP7B. Ten individuals with KIDAR syndrome have been reported to date. Here we describe the clinical, biochemical, and cell biological effects associated with a novel homozygous AP1B1 variant, (NM_001127.4: c.667delC, p.Leu223Trp*fsTer38) in a previously unreported individual. Our findings expand the phenotypic spectrum of this rare inherited illness, provide new data related to its cell biological effects, and offer insights relevant to potential treatment.

01 Feb 2025·Naunyn-Schmiedeberg's Archives of Pharmacology

Cinobufagin treatments suppress tumor growth by enhancing the expression of cuproptosis-related genes in liver cancer

Article

Author: AmeliMojarad, Melika ; Shariati, Parvin ; AmeliMojarad, Mandana

Cuproptosis is a recently discovered form of regulated cell death triggered by excess copper (Cu) strongly influenced by the import, export, and intracellular utilization of Cu known as Cu homeostasis. Cinobufagin (CB) is a well-known Chinese medicine for its apoptosis-inducing role; however, its function on cuproptosis is poorly understood. To evaluate the effect of CB on inducing cell death through cuproptosis, we used RNA-seq data of HepG2-treated cells with CB to understand Cuproptosis genes. By using CCK-8 assay, Ross assay, GSH assay, and qRT-PCR, we found that CB could enhance cuproptosis in primary liver cancer cell lines, especially by increasing copper transporters CTR1, CTR2, and LIAS and downregulation of copper efflux transporters ATP7A and ATP7B resulted in increased reactive oxygen species (ROS) production, copper ionophores while reduced intracellular copper chelator glutathione (GSH) synthesis. In conclusion, our findings indicated that CB by increasing cuproptosis-related genes can mediate higher cell cytotoxicity against HepG2 and HUH7 and could provide a new insight into mechanisms of CB as an anti-tumor agent for targeting liver cancer.

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