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Select item 109184601.

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

J. Robert Harkness, Huw B. Thomas, Jill E. Urquhart, Peter Jamieson, Genomics England Research Consortium, Raymond T. O'Keefe, Helen M. Kingston, Charulata Deshpande, William G. Newman

Eur J Med Genet. 2024 Feb; 67: 104907. doi: 10.1016/j.ejmg.2023.104907

PMCID:: PMC10918460

Article

Select item 107285222.

Shanbao Li, Junyong Weng, Chao Xiao, Jing Lu, Wanyue Cao, Fangbin Song, Zeping He, Peng Zhang, Zhonglin Zhu, Junming Xu

Cancer Rep (Hoboken) 2023 Dec; 6(12): e1904. Published online 2023 Oct 26. doi: 10.1002/cnr2.1904

PMCID:: PMC10728522

Article PDF–8.4M

Select item 85535993.

At sixes and sevens: cryptic domain in the metal binding chain of the human copper transporter ATP7A

Eva-Maria E. Uhlemann, Woonghee Lee, Marco Tonelli, Oleg Y. Dmitriev

Biophys J. 2021 Oct 19; 120(20): 4600–4607. Published online 2021 Aug 28. doi: 10.1016/j.bpj.2021.08.029

PMCID:: PMC8553599

Article PDF–2.2M

Select item 75014064.

ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

Aditi Mhaske, K.V. Dileep, Mukesh Kumar, Mukta Poojary, Kavita Pandhare, Kam Y.J. Zhang, Vinod Scaria, B.K. Binukumar

Comput Struct Biotechnol J. 2020; 18: 2347–2356. Published online 2020 Sep 2. doi: 10.1016/j.csbj.2020.08.021

PMCID:: PMC7501406

Article PDF–2.1M

Select item 71851915.

Immunocytochemical Localization of the Menkes Copper Transport Protein (ATP7A) to the Trans-Golgi Network

Herman A. Dierick, Ayla N. Adam, June F. Escara-Wilke, Thomas W. Glover

Hum Mol Genet. 1997 Mar 1; 6(3): 409–416. Published online 1997 Mar. doi: 10.1093/hmg/6.3.409

PMCID:: PMC7185191

Article PDF–271K

Select item 69709996.

CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual

Yeomin Yun, Sung-Ah Hong, Ka-Kyung Kim, Daye Baek, Dongsu Lee, Ashwini M. Londhe, Minhyung Lee, Jihyeon Yu, Zachary T. McEachin, Gary J. Bassell, Robert Bowser, Chadwick M. Hales, Sung-Rae Cho, Janghwan Kim, Ae Nim Pae, Eunji Cheong, Sangwoo Kim, Nicholas M. Boulis, Sangsu Bae, Yoon Ha

Commun Biol. 2020; 3: 33. Published online 2020 Jan 20. doi: 10.1038/s42003-020-0755-1

PMCID:: PMC6970999

Article PDF–1.9M

Select item 53412957.

Ammonium tetrathiomolybdate treatment targets the copper transporter ATP7A and enhances sensitivity of breast cancer to cisplatin

Cristine L. Chisholm, Haitao Wang, Ada Hang-Heng Wong, Guelaguetza Vazquez-Ortiz, Weiping Chen, Xiaoling Xu, Chu-Xia Deng

Oncotarget. 2016 Dec 20; 7(51): 84439–84452. Published online 2016 Oct 31. doi: 10.18632/oncotarget.12992

PMCID:: PMC5341295

Article PDF–9.5M

Select item 53216278.

MNK Controls mTORC1:Substrate Association Through Regulation of TELO2 Binding with mTORC1

Michael C. Brown, Matthias Gromeier

Cell Rep. Author manuscript; available in PMC 2017 Feb 23.

Published in final edited form as: Cell Rep. 2017 Feb 7; 18(6): 1444–1457. doi: 10.1016/j.celrep.2017.01.023

PMCID:: PMC5321627

Article PDF–2.2M

Select item 53029549.

Inhibition of Mnk enhances apoptotic activity of cytarabine in acute myeloid leukemia cells

Peng Li, Sarah Diab, Mingfeng Yu, Julian Adams, Saiful Islam, Sunita K.C. Basnet, Hugo Albrecht, Robert Milne, Shudong Wang

Oncotarget. 2016 Aug 30; 7(35): 56811–56825. Published online 2016 Jul 23. doi: 10.18632/oncotarget.10796

PMCID:: PMC5302954

Article PDF–6.3M

Select item 495716310.

Merestinib blocks Mnk kinase activity in acute myeloid leukemia progenitors and exhibits antileukemic effects in vitro and in vivo

Ewa M. Kosciuczuk, Diana Saleiro, Barbara Kroczynska, Elspeth M. Beauchamp, Frank Eckerdt, Gavin T. Blyth, Sameem M. Abedin, Francis J. Giles, Jessica K. Altman, Leonidas C. Platanias

Blood. 2016 Jul 21; 128(3): 410–414. Prepublished online 2016 Jun 15. doi: 10.1182/blood-2016-02-698704

PMCID:: PMC4957163

Article

Select item 438385811.

Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking

Ling Yi, Stephen G. Kaler

Hum Mol Genet. 2015 May 1; 24(9): 2411–2425. Published online 2015 Jan 7. doi: 10.1093/hmg/ddv002

PMCID:: PMC4383858

Article PDF–1.3M

Select item 421486712.

Stephen G. Kaler

Nat Rev Neurol. Author manuscript; available in PMC 2014 Oct 30.

Published in final edited form as: Nat Rev Neurol. 2011 Jan; 7(1): 15–29. doi: 10.1038/nrneurol.2010.180

PMCID:: PMC4214867

Article PDF–1.7M

Select item 409595113.

Translational research investigations on ATP7A, an important human copper ATPase

Stephen G. Kaler

Ann N Y Acad Sci. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Ann N Y Acad Sci. 2014 May; 1314: 64–68. Published online 2014 Apr 15. doi: 10.1111/nyas.12422

PMCID:: PMC4095951

Article PDF–427K

Select item 404106514.

ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A

Ling Yi, Stephen Kaler

Ann N Y Acad Sci. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Ann N Y Acad Sci. 2014 May; 1314(1): 49–54. Published online 2014 Apr 22. doi: 10.1111/nyas.12427

PMCID:: PMC4041065

Article PDF–390K

Select item 395391715.

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Saiqa Yasmeen, Katrine Lund, Anne De Paepe, Sylvia De Bie, Arvid Heiberg, João Silva, Márcia Martins, Tina Skjørringe, Lisbeth B Møller

Eur J Hum Genet. 2014 Apr; 22(4): 517–521. Published online 2013 Sep 4. doi: 10.1038/ejhg.2013.191

PMCID:: PMC3953917

Article PDF–327K

Select item 366772616.

Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2–, AP-1–, and Rab22-dependent steps

Zoe G. Holloway, Antonio Velayos-Baeza, Gareth J. Howell, Clotilde Levecque, Sreenivasan Ponnambalam, Elizabeth Sztul, Anthony P. Monaco

Mol Biol Cell. 2013 Jun 1; 24(11): 1735–1748. doi: 10.1091/mbc.E12-08-0625

PMCID:: PMC3667726

Article PDF–4.4M

Select item 348954617.

The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation

Gregorio León-García, Alfredo Santana, Nicolás Villegas-Sepúlveda, Concepción Pérez-González, José M Henrríquez-Esquíroz, Carlota de León-García, Carlos Wong, Isabel Baeza

BMC Pediatr. 2012; 12: 150. Published online 2012 Sep 19. doi: 10.1186/1471-2431-12-150