PMC Articles for MedGen (Select 892610) - PMC

Philip C. Wong, Darrel Waggoner, Jamuna R. Subramaniam, Lino Tessarollo, Thomas B. Bartnikas, Valeria C. Culotta, Donald L. Price, Jeffrey Rothstein, Jonathan D. Gitlin

Proc Natl Acad Sci U S A. 2000 Mar 14; 97(6): 2886–2891. Published online 2000 Feb 29. doi: 10.1073/pnas.040461197

PMCID:: PMC16025

Abstract Article PDF–446K

Select item 3982004.

AFT1: a mediator of iron regulated transcriptional control in Saccharomyces cerevisiae.

Y Yamaguchi-Iwai, A Dancis, R D Klausner

EMBO J. 1995 Mar 15; 14(6): 1231–1239. doi: 10.1002/j.1460-2075.1995.tb07106.x

PMCID:: PMC398200

Summary Page Browse PDF–2.1M

Select item 10510555.

Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.

W Masson, H Hughes, D Papworth, Y Boyd, N Horn

J Med Genet. 1997 Sep; 34(9): 729–732. doi: 10.1136/jmg.34.9.729

PMCID:: PMC1051055

Summary Page Browse PDF–811K

Select item 28633556.

Human copper transporters: mechanism, role in human diseases and therapeutic potential

Arnab Gupta, Svetlana Lutsenko

Future Med Chem. Author manuscript; available in PMC 2010 Jul 1.

Published in final edited form as: Future Med Chem. 2009 Sep 1; 1(6): 1125–1142. doi: 10.4155/fmc.09.84

PMCID:: PMC2863355

Abstract Article PDF–1.0M

Select item 33137967.

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

Ling Yi, Anthony Donsante, Marina L. Kennerson, Julian F.B. Mercer, James Y. Garbern, Stephen G. Kaler

Hum Mol Genet. 2012 Apr 15; 21(8): 1794–1807. Published online 2011 Dec 30. doi: 10.1093/hmg/ddr612

PMCID:: PMC3313796

Abstract Article PDF–660K

Select item 40443438.

In vivo and in vitro analyses of amygdalar function reveal a role for copper

E. D. Gaier, R. M. Rodriguiz, J. Zhou, M. Ralle, W. C. Wetsel, B. A. Eipper, R. E. Mains

J Neurophysiol. 2014 May 15; 111(10): 1927–1939. Published online 2014 Feb 19. doi: 10.1152/jn.00631.2013

PMCID:: PMC4044343

Abstract Article

Select item 42148649.

Inborn errors of copper metabolism

STEPHEN G. KALER

Handb Clin Neurol. Author manuscript; available in PMC 2014 Oct 30.

Published in final edited form as: Handb Clin Neurol. 2013; 113: 1745–1754. doi: 10.1016/B978-0-444-59565-2.00045-9

PMCID:: PMC4214864

Abstract Article PDF–574K

Select item 474633210.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Cirak, Monique van Scherpenzeel, Sharita Timal, Janine Reunert, Stephan Rust, Belén Pérez, Dorothée Vicogne, Peter Krawitz, Yoshinao Wada, Angel Ashikov, Celia Pérez-Cerdá, Celia Medrano, Andrea Arnoldy, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Dulce Quelhas, Luisa Diogo, Daisy Rymen, Jaak Jaeken, Nathalie Guffon, David Cheillan, Lambertus P. van den Heuvel, Yusuke Maeda, Olaf Kaiser, Ulrike Schara, Patrick Gerner, Marjolein A.W. van den Boogert, Adriaan G. Holleboom, Marie-Cécile Nassogne, Etienne Sokal, Jody Salomon, Geert van den Bogaart, Joost P.H. Drenth, Martijn A. Huynen, Joris A. Veltman, Ron A. Wevers, Eva Morava, Gert Matthijs, François Foulquier, Thorsten Marquardt, Dirk J. Lefeber

Am J Hum Genet. 2016 Feb 4; 98(2): 310–321. Published online 2016 Jan 28. doi: 10.1016/j.ajhg.2015.12.010

PMCID:: PMC4746332

Abstract Article PDF–2.1M

Select item 596104011.

Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration

Ling Yi, Stephen G. Kaler

J Biol Chem. 2018 May 18; 293(20): 7606–7617. Published online 2018 Mar 29. doi: 10.1074/jbc.RA117.000686

PMCID:: PMC5961040

Abstract Article PDF–3.8M

Select item 1082758312.

ATP7A-dependent copper sequestration contributes to termination of β-CATENIN signaling during early adipogenesis

H. Yang, E. Kabin, Y. Dong, X. Zhang, M. Ralle, S. Lutsenko

Mol Metab. 2024 Feb; 80: 101872. Published online 2024 Jan 6. doi: 10.1016/j.molmet.2024.101872

PMCID:: PMC10827583

Abstract Article PDF–2.9M

Select item 631149813.

ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase

Katharina Schmidt, Martina Ralle, Thomas Schaffer, Samuel Jayakanthan, Bilal Bari, Abigael Muchenditsi, Svetlana Lutsenko

J Biol Chem. 2018 Dec 28; 293(52): 20085–20098. Published online 2018 Oct 19. doi: 10.1074/jbc.RA118.004889

PMCID:: PMC6311498

Abstract Article PDF–3.7M

Select item 642463914.

Impaired copper transport in schizophrenia results in a copper-deficient brain state: a new side to the dysbindin story.

Kirsten E. Schoonover, Stacy L. Queern, Suzanne E. Lapi, Rosalinda C. Roberts

World J Biol Psychiatry. Author manuscript; available in PMC 2020 Mar 19.

Published before final editing as: World J Biol Psychiatry. 2018 Sep 19 : 1–37. doi: 10.1080/15622975.2018.1523562 [Epub ahead of print]

PMCID:: PMC6424639

Abstract Article PDF–1.2M

Select item 703708815.

Current Biomedical Use of Copper Chelation Therapy

Silvia Baldari, Giuliana Di Rocco, Gabriele Toietta

Int J Mol Sci. 2020 Feb; 21(3): 1069. Published online 2020 Feb 6. doi: 10.3390/ijms21031069

PMCID:: PMC7037088

Abstract Article PDF–762K

Select item 780432916.

Lysosomal SLC46A3 modulates hepatic cytosolic copper homeostasis

Jung-Hwan Kim, Tsutomu Matsubara, Jaekwon Lee, Cristina Fenollar-Ferrer, Kyungreem Han, Donghwan Kim, Shang Jia, Christopher J. Chang, Heejung Yang, Tomokazu Nagano, Kristopher W. Krausz, Sun-Hee Yim, Frank J. Gonzalez

Nat Commun. 2021; 12: 290. Published online 2021 Jan 12. doi: 10.1038/s41467-020-20461-0

PMCID:: PMC7804329

Abstract Article PDF–5.8M

Select item 782073717.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl⁻/H⁺-Exchanger, Causes Early-Onset Neurodegeneration

Maya M. Polovitskaya, Carlo Barbini, Diego Martinelli, Frederike L. Harms, F. Sessions Cole, Paolo Calligari, Gianfranco Bocchinfuso, Lorenzo Stella, Andrea Ciolfi, Marcello Niceta, Teresa Rizza, Marwan Shinawi, Kathleen Sisco, Jessika Johannsen, Jonas Denecke, Rosalba Carrozzo, Daniel J. Wegner, Kerstin Kutsche, Marco Tartaglia, Thomas J. Jentsch

Am J Hum Genet. 2020 Dec 3; 107(6): 1062–1077. Published online 2020 Nov 19. doi: 10.1016/j.ajhg.2020.11.004

PMCID:: PMC7820737

Abstract Article PDF–3.5M

Select item 786616618.

Neurometals in the Pathogenesis of Prion Diseases

Masahiro Kawahara, Midori Kato-Negishi, Ken-ichiro Tanaka

Int J Mol Sci. 2021 Feb; 22(3): 1267. Published online 2021 Jan 28. doi: 10.3390/ijms22031267

PMCID:: PMC7866166

Abstract Article PDF–1.6M

Select item 798788919.

Abnormalities in the copper transporter CTR1 in postmortem hippocampus in schizophrenia: a subregion and laminar analysis.

Kirsten E. Schoonover, Charlene B. Farmer, Charity J Morgan, Vidushi Sinha, Laura Odom, Rosalinda C. Roberts

Schizophr Res. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Schizophr Res. 2021 Feb; 228: 60–73. Published online 2021 Jan 9. doi: 10.1016/j.schres.2020.12.016

PMCID:: PMC7987889

Abstract Article PDF–4.6M

Select item 845620120.

Copper Promotes Tumorigenesis by Activating the PDK1‐AKT Oncogenic Pathway in a Copper Transporter 1 Dependent Manner

Jianping Guo, Ji Cheng, Nana Zheng, Xiaomei Zhang, Xiaoming Dai, Linli Zhang, Changjiang Hu, Xueji Wu, Qiwei Jiang, Depei Wu, Hitoshi Okada, Pier Paolo Pandolfi, Wenyi Wei

Adv Sci (Weinh) 2021 Sep; 8(18): 2004303. Published online 2021 Jul 18. doi: 10.1002/advs.202004303

PMCID:: PMC8456201

Abstract Article PDF–3.1M

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