| Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype. | Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Harkness JR, Thomas HB, Urquhart JE, Jamieson P, Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG., Free PMC Article | 02/1/2024 |
| Cuproptosis-related molecular patterns and gene (ATP7A) in hepatocellular carcinoma and their relationships with tumor immune microenvironment and clinical features. | Cuproptosis-related molecular patterns and gene (ATP7A) in hepatocellular carcinoma and their relationships with tumor immune microenvironment and clinical features.
Li S, Weng J, Xiao C, Lu J, Cao W, Song F, He Z, Zhang P, Zhu Z, Xu J., Free PMC Article | 12/28/2023 |
| Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B. | Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B.
Ruturaj, Mishra M, Saha S, Maji S, Rodriguez-Boulan E, Schreiner R, Gupta A., Free PMC Article | 12/6/2023 |
| [Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene]. | [Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene].
Wang Z, Chen Q, Wang Y, Liu L, Li C. | 05/30/2023 |
| ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes. | ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
De Feyter S, Beyens A, Callewaert B. | 03/15/2023 |
| Circular RNA circPBX3 promotes cisplatin resistance of ovarian cancer cells via interacting with IGF2BP2 to stabilize ATP7A mRNA expression. | Circular RNA circPBX3 promotes cisplatin resistance of ovarian cancer cells via interacting with IGF2BP2 to stabilize ATP7A mRNA expression.
Fu L, Zhang D, Yi N, Cao Y, Wei Y, Wang W, Li L. | 08/27/2022 |
| MiR-495 Inhibits Cisplatin Resistance and Angiogenesis in Esophageal Cancer by Targeting ATP7A. | MiR-495 Inhibits Cisplatin Resistance and Angiogenesis in Esophageal Cancer by Targeting ATP7A.
Li Z, Li S, Wen Y, Chen J, Liu K, Jia J., Free PMC Article | 02/12/2022 |
| The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease. | The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Bakkar N, Starr A, Rabichow BE, Lorenzini I, McEachin ZT, Kraft R, Chaung M, Macklin-Isquierdo S, Wingfield T, Carhart B, Zahler N, Chang WH, Bassell GJ, Betourne A, Boulis N, Alworth SV, Ichida JK, August PR, Zarnescu DC, Sattler R, Bowser R., Free PMC Article | 11/22/2021 |
| At sixes and sevens: cryptic domain in the metal binding chain of the human copper transporter ATP7A. | At sixes and sevens: cryptic domain in the metal binding chain of the human copper transporter ATP7A.
Uhlemann EE, Lee W, Tonelli M, Dmitriev OY., Free PMC Article | 11/6/2021 |
| CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual. | CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual.
Yun Y, Hong SA, Kim KK, Baek D, Lee D, Londhe AM, Lee M, Yu J, McEachin ZT, Bassell GJ, Bowser R, Hales CM, Cho SR, Kim J, Pae AN, Cheong E, Kim S, Boulis NM, Bae S, Ha Y., Free PMC Article | 05/15/2021 |
| [Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease]. | [Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease].
Li X, Jia T, Zhang X, Gan L, Guo Q, Li X. | 02/20/2021 |
| Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects. | Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
Stevens KE, Price JE, Marko J, Kaler SG. | 02/2/2021 |
| Impaired copper transport in schizophrenia results in a copper-deficient brain state: A new side to the dysbindin story. | Impaired copper transport in schizophrenia results in a copper-deficient brain state: A new side to the dysbindin story.
Schoonover KE, Queern SL, Lapi SE, Roberts RC., Free PMC Article | 11/21/2020 |
| High ATP7A expression is associated with breast cancer cell migration. | Single-cell tracking demonstrates copper chaperone Atox1 to be required for breast cancer cell migration.
Blockhuys S, Zhang X, Wittung-Stafshede P., Free PMC Article | 05/16/2020 |
| Involving MNK targeting to sensitize medulloblastoma CSCs to PI3Kalpha inhibition. | Potent Antineoplastic Effects of Combined PI3Kα-MNK Inhibition in Medulloblastoma.
Eckerdt F, Bell JB, Beauchamp EM, Clymer J, Blyth GT, Kosciuczuk EM, Ma Q, Chen DZ, Horbinski C, Goldman S, Munshi HG, Hashizume R, Platanias LC., Free PMC Article | 05/2/2020 |
| Binding of TAp73 to the ATP7A promoter occurs in non-small cell lung carcinoma cells. | TAp73 regulates ATP7A: possible implications for ageing-related diseases.
Lopriore P, Capitanio N, Panatta E, Di Daniele N, Gambacurta A, Melino G, Amelio I., Free PMC Article | 11/23/2019 |
| An early definite diagnosis is necessary for the early treatment of Menkes disease, and gene analysis serves as an effective method for detecting mutations in ATP7A. | ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
Fujisawa C, Kodama H, Hiroki T, Akasaka Y, Hamanoue M. | 05/11/2019 |
| In our review, we highlight the roles of ATP7A/7B in platinum drug resistance and cancer progression. We also discuss the possible mechanisms of platinum drug resistance mediated by ATP7A/7B and provide novel strategies for overcoming resistance. This review may be helpful for understanding the roles of ATP7A and ATP7B in platinum drug resistance | Copper efflux transporters ATP7A and ATP7B: Novel biomarkers for platinum drug resistance and targets for therapy.
Li YQ, Yin JY, Liu ZQ, Li XP. | 02/2/2019 |
| we demonstrated that the restoration/preservation of autophagic-lysosomal degradation in senescent MEFs following rapamycin treatment correlated with attenuation of copper accumulation in these cells despite a further decrease in Atp7a levels. This study for the first time establishes a link between Atp7a and the autophagic-lysosomal pathway, and a requirement for both to effect efficient copper export | Copper accumulation in senescent cells: Interplay between copper transporters and impaired autophagy.
Masaldan S, Clatworthy SAS, Gamell C, Smith ZM, Francis PS, Denoyer D, Meggyesy PM, Fontaine S, Cater MA., Free PMC Article | 10/13/2018 |
| the severity of MD correlate with cellular localization of ATP7A and support previous studies indicating that phosphorylation is crucial for the exit of ATP7A from TGN, while dephosphorylation is crucial for recycling back to TGN. | Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T, Amstrup Pedersen P, Salling Thorborg S, Nissen P, Gourdon P, Birk Møller L., Free PMC Article | 09/1/2018 |
| We determined in silico that all the mutations leading to the classical Menkes disease leave no residual activity of ATP7A including the apparently less severe in-frame deletions. Whereas milder forms of the disease are characterized by mutations that allow a limited residual activity of ATP7A, including the nonsense mutation observed. | 13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
de Gemmis P, Enzo MV, Lorenzetto E, Cattelan P, Segat D, Hladnik U. | 04/28/2018 |
| Candidate RNAi screen revealed copper-transporting ATPase (ATP7A) as a target for inducing cisplatin sensitivity. | Ammonium tetrathiomolybdate treatment targets the copper transporter ATP7A and enhances sensitivity of breast cancer to cisplatin.
Chisholm CL, Wang H, Wong AH, Vazquez-Ortiz G, Chen W, Xu X, Deng CX., Free PMC Article | 03/10/2018 |
| Mnk inhibition enhances apoptotic activity of cytarabine in acute myeloid leukemia cells | Inhibition of Mnk enhances apoptotic activity of cytarabine in acute myeloid leukemia cells.
Li P, Diab S, Yu M, Adams J, Islam S, Basnet SK, Albrecht H, Milne R, Wang S., Free PMC Article | 02/24/2018 |
| The authors conclude that the ATP7A interactome encompasses a novel Golgi-localized conserved oligomeric Golgi (COG) complex-dependent mechanism to specify neuronal development and survival. | The interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors.
Comstra HS, McArthy J, Rudin-Rush S, Hartwig C, Gokhale A, Zlatic SA, Blackburn JB, Werner E, Petris M, D'Souza P, Panuwet P, Barr DB, Lupashin V, Vrailas-Mortimer A, Faundez V., Free PMC Article | 01/6/2018 |
| Mutation in ATP7A gene is associated with X-linked distal hereditary motor neuropathy. | Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML., Free PMC Article | 12/16/2017 |