Eriocitrin inhibits sodium iodate-induced cuproptosis and barrier function impairment in retinal pigment epithelium via SIRT7/YAP/ATP7A pathway [PDF]
Journal of Translational MedicineBackground Dry age-related macular degeneration (AMD) is characterized by retinal pigment epithelium (RPE) barrier dysfunction, and currently lacks effective treatment options.
Xinchen Wang +5 more
doaj +4 more sources
Transcriptional profiles in zebrafish atp7a mutants and responses of atp7a mutants to Cu stress
Water Biology and Security, 2023 As a copper (Cu) transport ATPase, ATP7A plays an important role in maintaining Cu homeostasis in the body, but the developmental and physiological roles of atp7a in zebrafish embryogenesis are rarely studied.
You Wu +4 more
doaj +3 more sources
Atp7a deficiency induces axonal and myelin developmental defects in zebrafish via ferroptosis
Neurobiology of DiseaseATP7A genetic mutations lead to Menkes disease (MD), a hereditary neurodegenerative disorder develops significant metabolic abnormalities including copper deficiency and hypomyelination, and even death before 3 years old.
You Wu +8 more
doaj +3 more sources
Retropseudogene insertion generated through retrotransposition in the ATP7A gene results in premature stop codons and a case of Menkes disease [PDF]
Frontiers in NeurologyPathogenic variants in the ATP7A gene, which encodes a transmembrane copper-transporting P-type ATPase, underlie Menkes disease, a rare X-linked recessive disorder of copper metabolism.
Mengyao Kou +4 more
doaj +3 more sources
The interplay between copper metabolism and microbes: in perspective of host copper-dependent ATPases ATP7A/B [PDF]
Frontiers in Cellular and Infection Microbiology, 2023 Copper, a vital element in various physiological processes, is transported from the gastrointestinal tract to tissues and cells through diverse copper transporters.
Yixuan Zhou +5 more
doaj +3 more sources
ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle [PDF]
Biomedicines, 2021 Copper is vital for numerous cellular functions affecting all tissues and organ systems in the body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes
Nina Horn, Pernilla Wittung‐Stafshede
semanticscholar +5 more sources
Genetic diversity, tissue-specific expression, and functional analysis of the ATP7A gene in sheep
Frontiers in Genetics, 2023 In humans, variation of the ATP7A gene may cause cranial exostosis, which is similar to “human horn,” but the function of the ATP7A gene in sheep is still unknown.
Hao Li +7 more
doaj +2 more sources
CRISPR prime editing as a promising therapeutic avenue for Menkes disease: the next step in correcting ATP7A mutations. [PDF]
Ann Med Surg (Lond)Menkes disease is a life-threatening X-linked disease caused by mutations in ATP7A, an ATPase that mediates copper transport and is vital for copper homeostasis in the nervous system and the whole body.
Shahab SH, Habib F.
europepmc +2 more sources
Novel <i>ATP7A</i> Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review. [PDF]
Genes (Basel)Background: Pathogenic hemizygous variants in ATP7A most commonly cause Menkes disease or occipital horn syndrome (OHS), whereas ATP7A-related distal hereditary motor neuropathy (dHMN) is rarely reported.
Writzl K +6 more
europepmc +2 more sources
MiR-495 Inhibits Cisplatin Resistance and Angiogenesis in Esophageal Cancer by Targeting ATP7A
Technology in Cancer Research & Treatment, 2021 Background: Cancer resistance to chemotherapy is closely associated with changes in transporter systems. In this study, we investigated the possible regulation of 1 copper ion transporter (ATP7A; ATPase copper transporting alpha) by microRNA miR-495 and ...
Zhuanghua Li MD +5 more
doaj +2 more sources