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Select item 96570331.

ATP7B-Deficient Hepatocytes Reveal the Importance of Protein Misfolding Induced at Low Copper Concentration

Peggy Charbonnier, Benoît Chovelon, Corinne Ravelet, Tuan Dung Ngo, Mireille Chevallet, Aurélien Deniaud

Cells. 2022 Nov; 11(21): 3400. Published online 2022 Oct 27. doi: 10.3390/cells11213400

PMCID:: PMC9657033

Abstract Article PDF–3.6M

Select item 92394852.

Analysis of Wilson disease mutations in copper binding domain of ATP7B gene

Bushra Gul, Sabika Firasat, Raeesa Tehreem, Tayyaba Shan, Kiran Afshan

PLoS One. 2022; 17(6): e0269833. Published online 2022 Jun 28. doi: 10.1371/journal.pone.0269833

PMCID:: PMC9239485

Abstract Article PDF–1.8M

Select item 84577073.

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified

Zhongyan Xiao, Yuan Yang, Hui Huang, Haiyan Tang, Liqun Liu, Jianguang Tang, Xiaoliu Shi

Mol Genet Genomic Med. 2021 Sep; 9(9): e1735. Published online 2021 Jul 29. doi: 10.1002/mgg3.1735

PMCID:: PMC8457707

Abstract Article PDF–729K

Select item 84115424.

Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease

Mingming Li, Jing Ma, Wenlong Wang, Xu Yang, Kaizhong Luo

BMC Gastroenterol. 2021; 21: 339. Published online 2021 Sep 1. doi: 10.1186/s12876-021-01911-5

PMCID:: PMC8411542

Abstract Article PDF–1.1M

Select item 83019625.

Copper Imbalance in Alzheimer’s Disease: Meta-Analysis of Serum, Plasma, and Brain Specimens, and Replication Study Evaluating ATP7B Gene Variants

Rosanna Squitti, Mariacarla Ventriglia, Ilaria Simonelli, Cristian Bonvicini, Alfredo Costa, Giulia Perini, Giuliano Binetti, Luisa Benussi, Roberta Ghidoni, Giacomo Koch, Barbara Borroni, Alberto Albanese, Stefano L. Sensi, Mauro Rongioletti

Biomolecules. 2021 Jul; 11(7): 960. Published online 2021 Jun 29. doi: 10.3390/biom11070960

PMCID:: PMC8301962

Abstract Article PDF–3.8M

Select item 82438986.

Direct Measurement of ATP7B Peptides is Highly Effective in the Diagnosis of Wilson Disease

Christopher J. Collins, Fan Yi, Remwilyn Dayuha, Phi Duong, Simon Horslen, Michelle Camarata, Ayse K. Coskun, Roderick H.J. Houwen, Tudor L. Pop, Heinz Zoller, Han-wook Yoo, Sung Won Jung, Karl H. Weiss, Michael L. Schilsky, Peter Ferenci, Sihoun Hahn

Gastroenterology. Author manuscript; available in PMC 2021 Jun 30.

Published in final edited form as: Gastroenterology. 2021 Jun; 160(7): 2367–2382.e1. Published online 2021 Feb 25. doi: 10.1053/j.gastro.2021.02.052

PMCID:: PMC8243898

Abstract Article PDF–1.7M

Select item 80782977.

Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series

Jiuxiang Wang, Lulu Tang, Anqi Xu, Shijie Zhang, Hailin Jiang, Pei Pei, Hongmei Li, Tingting Lv, Yue Yang, Nannan Qian, Keegan Naidu, Wenming Yang

Medicine (Baltimore) 2021 Apr 23; 100(16): e25463. Published online 2021 Apr 23. doi: 10.1097/MD.0000000000025463

PMCID:: PMC8078297

Abstract Article PDF–476K

Select item 80270238.

Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations

Clemens Höflich, Angela Brieger, Stefan Zeuzem, Guido Plotz

Sci Rep. 2021; 11: 7674. Published online 2021 Apr 7. doi: 10.1038/s41598-021-87000-9

PMCID:: PMC8027023

Abstract Article PDF–1.8M

Select item 79964919.

Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect

Guo-Min Yang, Rou-Min Wang, Nan Xia, Zi-Wei Zheng, Yi Dong, Zhi-Ying Wu

Genes (Basel) 2021 Mar; 12(3): 336. Published online 2021 Feb 25. doi: 10.3390/genes12030336

PMCID:: PMC7996491

Abstract Article PDF–1.1M

Select item 761118610.

Retromer retrieves the Wilson disease protein ATP7B from endolysosomes in a copper-dependent manner

Santanu Das, Saptarshi Maji, Ruturaj, Indira Bhattacharya, Tanusree Saha, Nabanita Naskar, Arnab Gupta

J Cell Sci. Author manuscript; available in PMC 2021 Jul 12.

Published in final edited form as: J Cell Sci. 2020 Dec 24; 133(24): jcs246819. Published online 2020 Dec 24. doi: 10.1242/jcs.246819

PMCID:: PMC7611186

Abstract Article PDF–3.4M

Select item 754959911.

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

France Woimant, Aurelia Poujois, Adrien Bloch, Tabaras Jordi, Jean‐Louis Laplanche, Hélène Morel, Corinne Collet

Mol Genet Genomic Med. 2020 Oct; 8(10): e1428. Published online 2020 Aug 8. doi: 10.1002/mgg3.1428

PMCID:: PMC7549599

Abstract Article PDF–1.0M

Select item 741802312.

Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties

Shubhrajit Roy, Courtney J. McCann, Martina Ralle, Kunal Ray, Jharna Ray, Svetlana Lutsenko, Samuel Jayakanthan

Sci Rep. 2020; 10: 13487. Published online 2020 Aug 10. doi: 10.1038/s41598-020-70366-7

PMCID:: PMC7418023

Abstract Article PDF–8.4M

Select item 730435013.

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

Daniel C. Koboldt, Scott E. Hickey, Bimal P. Chaudhari, Theresa Mihalic Mosher, Tracy Bedrosian, Erin Crist, Stephen G. Kaler, Kim McBride, Peter White, Richard K. Wilson

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005306. doi: 10.1101/mcs.a005306

PMCID:: PMC7304350

Abstract Article PDF–3.7M

Select item 706434714.

ATP7B knockout disturbs copper and lipid metabolism in Caco-2 cells

Sarah Guttmann, Oksana Nadzemova, Inga Grünewald, Malte Lenders, Eva Brand, Andree Zibert, Hartmut H. Schmidt

PLoS One. 2020; 15(3): e0230025. Published online 2020 Mar 10. doi: 10.1371/journal.pone.0230025

PMCID:: PMC7064347

Abstract Article PDF–2.2M

Select item 689630615.

A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next-generation sequencing and Sanger sequencing

Wei-Liang Liu, Fang Li, Lu Liu, Wei Chen, Zhi-Xu He, Hao Gu, Rong Ai

Mol Med Rep. 2020 Jan; 21(1): 517–523. Published online 2019 Nov 20. doi: 10.3892/mmr.2019.10830

PMCID:: PMC6896306

Abstract Article PDF–500K

Select item 687865616.

SINGLE NUCLEOTIDE POLYMORPHISMS IN HUMAN ATP7B GENE MODIFY PROPERTIES OF ATP7B PROTEIN

Courtney J. McCann, Samuel Jayakanthan, Mariacristina Siotto, Nan Yang, Maria Osipova, Rosanna Squitti, Svetlana Lutsenko

Metallomics. Author manuscript; available in PMC 2020 Jun 19.

Published in final edited form as: Metallomics. 2019 Jun 19; 11(6): 1128–1139. doi: 10.1039/c9mt00057g

Correction in:: Metallomics. 2019 Aug 2

PMCID:: PMC6878656

Abstract Article PDF–1.7M

Select item 677761417.

Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export

Amelie Stalke, Eva-Doreen Pfister, Ulrich Baumann, Marlies Eilers, Vera Schäffer, Thomas Illig, Bernd Auber, Brigitte Schlegelberger, Renate Brackmann, Holger Prokisch, Simon Krooss, Jens Bohne, Britta Skawran

Eur J Hum Genet. 2019 Jun; 27(6): 879–887. Published online 2019 Feb 5. doi: 10.1038/s41431-019-0345-1

PMCID:: PMC6777614

Abstract Article PDF–1.6M

Select item 650302918.

Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease

Zhiling Qian, Xiongwei Cui, Yunli Huang, Yanmin Liu, Ning Li, Sujun Zheng, Jun Jiang, Shichang Cui

Mol Genet Genomic Med. 2019 May; 7(5): e649. Published online 2019 Mar 18. doi: 10.1002/mgg3.649

PMCID:: PMC6503029

Abstract Article PDF–493K

Select item 650232219.

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Nivedita Singh, Pradeep Kallollimath, Mohd Hussain Shah, Saketh Kapoor, Vishwanath Kumble Bhat, Lakshminarayanapuram Gopal Viswanathan, Madhu Nagappa, Parayil S. Bindu, Arun B. Taly, Sanjib Sinha, Arun Kumar

PLoS One. 2019; 14(5): e0215779. Published online 2019 May 6. doi: 10.1371/journal.pone.0215779

PMCID:: PMC6502322

Abstract Article PDF–3.4M

Select item 636510720.

A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism

Maya Schushan, Ashima Bhattacharjee, Nir Ben-Tal, Svetlana Lutsenko

Metallomics. Author manuscript; available in PMC 2019 Feb 6.

Published in final edited form as: Metallomics. 2012 Jul; 4(7): 669–678. Published online 2012 Jun 13. doi: 10.1039/c2mt20025b

PMCID:: PMC6365107

Abstract Article PDF–1.1M

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PMC Links for Gene (Select 540) (127)
PMC
copper-transporting ATPase 2 isoform i [Homo sapiens]
copper-transporting ATPase 2 isoform i [Homo sapiens]
gi|2240200082|ref|NP_001393447.1|

Protein
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform ...
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1 [Homo sapiens]
gi|767918195|ref|XP_011509504.1|

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