Publications:

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Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.

Human Molecular Genetics

Song, Dan D; Takahashi, Gou G; Zheng, Yun-Wen YW; Matsuo-Takasaki, Mami M; Li, Jingyue J; Takami, Miho M; An, Yuri Y; Hemmi, Yasuko Y; Miharada, Natsumi N; Fujioka, Tsuyoshi T; Noguchi, Michiya M; Nakajima, Takashi T; Saito, Megumu K MK; Nakamura, Yukio Y; Oda, Tatsuya T; Miyaoka, Yuichiro Y; Hayashi, Yohei Y

Publication Date: 2022-10-28

Variant appearance in text: ATP7B: 3191A>C; E1064A

PubMed Link: 35388883

Variant Present in the following documents:

• supplementaryinformation-sd-yh_proof_ddac080.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: ATP7B: 3191A>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ATP7B: E1064A; rs374094065

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12

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Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency.

Frontiers In Pediatrics

Diaz, Jenna J; Fonseca, Ashley G AG; Arboleda, Richard R; Frade, Alejandro A; Gennaro, Maria Pilar MP; Jayakar, Parul P; Schleifer, Paula P; Hernandez, Erick E

Publication Date: 2021

Variant appearance in text: ATP7B: E1064A

PubMed Link: 34676189

Variant Present in the following documents:

• Main text
• fped-09-750593.pdf

View BVdb publication page

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: ATP7B: 3191A>C; Glu1064Ala

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

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A case of Wilson disease with the ATP7B mutation presenting movement disorders.

Surgical Neurology International

Van Nguyen, Huong H; Nguyen, Diep Ngoc DN; Nguyen, Huong Thi HT

Publication Date: 2021

Variant appearance in text: ATP7B: E1064A

PubMed Link: 34345444

Variant Present in the following documents:

• SNI-12-303.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ATP7B: 3191A>C; Glu1064Ala; rs374094065

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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

Gastroenterology

Collins, Christopher J CJ; Yi, Fan F; Dayuha, Remwilyn R; Duong, Phi P; Horslen, Simon S; Camarata, Michelle M; Coskun, Ayse K AK; Houwen, Roderick H J RHJ; Pop, Tudor L TL; Zoller, Heinz H; Yoo, Han-Wook HW; Jung, Sung Won SW; Weiss, Karl H KH; Schilsky, Michael L ML; Ferenci, Peter P; Hahn, Si Houn SH

Publication Date: 2021-06

Variant appearance in text: ATP7B: E1064A

PubMed Link: 33640437

Variant Present in the following documents:

• Main text

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

Scientific Reports

Roy, Shubhrajit S; McCann, Courtney J CJ; Ralle, Martina M; Ray, Kunal K; Ray, Jharna J; Lutsenko, Svetlana S; Jayakanthan, Samuel S

Publication Date: 2020-08-10

Variant appearance in text: ATP7B: E1064A

PubMed Link: 32778786

Variant Present in the following documents:

• 41598_2020_Article_70366.pdf

View BVdb publication page

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Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.

Current Neuropharmacology

Yuan, Xiang-Zhen XZ; Yang, Ren-Min RM; Wang, Xiao-Ping XP

Publication Date: 2021

Variant appearance in text: ATP7B: E1064A

PubMed Link: 32351182

Variant Present in the following documents:

• CN-19-465.pdf

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Case of Early-Onset Parkinson's Disease in a Heterozygous Mutation Carrier of the ATP7B Gene.

Journal Of Personalized Medicine

Ilyechova, Ekaterina Y EY; Miliukhina, Irina V IV; Karpenko, Marina N MN; Orlov, Iurii A IA; Puchkova, Ludmila V LV; Samsonov, Sergey A SA

Publication Date: 2019-08-17

Variant appearance in text: ATP7B: E1064A

PubMed Link: 31426520

Variant Present in the following documents:

• Main text
• jpm-09-00041.pdf

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Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease.

The Clinical Biochemist. Reviews

Mohr, Isabelle I; Weiss, Karl Heinz KH

Publication Date: 2019-05

Variant appearance in text: ATP7B: E1064A

PubMed Link: 31205375

Variant Present in the following documents:

• Main text

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Challenges in the diagnosis of Wilson disease.

Annals Of Translational Medicine

Poujois, Aurélia A; Woimant, France F

Publication Date: 2019-04

Variant appearance in text: ATP7B: E1064A

PubMed Link: 31179304

Variant Present in the following documents:

• Main text

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

Plos One

Singh, Nivedita N; Kallollimath, Pradeep P; Shah, Mohd Hussain MH; Kapoor, Saketh S; Bhat, Vishwanath Kumble VK; Viswanathan, Lakshminarayanapuram Gopal LG; Nagappa, Madhu M; Bindu, Parayil S PS; Taly, Arun B AB; Sinha, Sanjib S; Kumar, Arun A

Publication Date: 2019

Variant appearance in text: ATP7B: 3191A>C; Glu1064Ala

PubMed Link: 31059521

Variant Present in the following documents:

• pone.0215779.s001.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ATP7B: E1064A

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Wilson disease.

Nature Reviews. Disease Primers

Członkowska, Anna A; Litwin, Tomasz T; Dusek, Petr P; Ferenci, Peter P; Lutsenko, Svetlana S; Medici, Valentina V; Rybakowski, Janusz K JK; Weiss, Karl Heinz KH; Schilsky, Michael L ML

Publication Date: 2018-09-06

Variant appearance in text: ATP7B: E1064A

PubMed Link: 30190489

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells.

Scientific Reports

Parisi, Silvia S; Polishchuk, Elena V EV; Allocca, Simona S; Ciano, Michela M; Musto, Anna A; Gallo, Maria M; Perone, Lucia L; Ranucci, Giusy G; Iorio, Raffaele R; Polishchuk, Roman S RS; Bonatti, Stefano S

Publication Date: 2018-04-19

Variant appearance in text: ATP7B: E1064A

PubMed Link: 29674751

Variant Present in the following documents:

• 41598_2018_Article_24717.pdf

View BVdb publication page

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The genetics of Wilson disease.

Handbook Of Clinical Neurology

Chang, Irene J IJ; Hahn, Si Houn SH

Publication Date: 2017

Variant appearance in text: ATP7B: E1064A

PubMed Link: 28433102

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.

Journal Of Proteome Research

Jung, Sunhee S; Whiteaker, Jeffrey R JR; Zhao, Lei L; Yoo, Han-Wook HW; Paulovich, Amanda G AG; Hahn, Si Houn SH

Publication Date: 2017-02-03

Variant appearance in text: ATP7B: E1064A

PubMed Link: 27935710

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural Insights into the Nucleotide-Binding Domains of the P1B-type ATPases HMA6 and HMA8 from Arabidopsis thaliana.

Plos One

Mayerhofer, Hubert H; Sautron, Emeline E; Rolland, Norbert N; Catty, Patrice P; Seigneurin-Berny, Daphné D; Pebay-Peyroula, Eva E; Ravaud, Stéphanie S

Publication Date: 2016

Variant appearance in text: ATP7B: E1064A

PubMed Link: 27802305

Variant Present in the following documents:

• pone.0165666.pdf

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Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Clinical Genetics

Shi, L L; Webb, B D BD; Birch, A H AH; Elkhoury, L L; McCarthy, J J; Cai, X X; Oishi, K K; Mehta, L L; Diaz, G A GA; Edelmann, L L; Kornreich, R R

Publication Date: 2017-04

Variant appearance in text: ATP7B: E1064A

PubMed Link: 27415407

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ATP7B: E1064A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis.

The Indian Journal Of Medical Research

Gupta, Arnab A

Publication Date: 2015-02

Variant appearance in text: ATP7B: E1064A

PubMed Link: 25900946

Variant Present in the following documents:

• Main text
• IJMR-141-145.pdf

View BVdb publication page

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Late onset fulminant Wilson's disease: a case report and review of the literature.

World Journal Of Gastroenterology

Weitzman, Ella E; Pappo, Orit O; Weiss, Peretz P; Frydman, Moshe M; Haviv-Yadid, Yael Y; Ben Ari, Ziv Z

Publication Date: 2014-12-14

Variant appearance in text: ATP7B: E1064A

PubMed Link: 25516681

Variant Present in the following documents:

• Main text

View BVdb publication page

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Intestinal expression of metal transporters in Wilson's disease.

Biometals : An International Journal On The Role Of Metal Ions In Biology, Biochemistry, And Medicine

Przybyłkowski, Adam A; Gromadzka, Grażyna G; Wawer, Adriana A; Grygorowicz, Tomasz T; Cybulska, Anna A; Członkowska, Anna A

Publication Date: 2013-12

Variant appearance in text: ATP7B: E1064A

PubMed Link: 23963605

Variant Present in the following documents:

• 10534_2013_Article_9668.pdf

View BVdb publication page

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Golgi in copper homeostasis: a view from the membrane trafficking field.

Histochemistry And Cell Biology

Polishchuk, Roman R; Lutsenko, Svetlana S

Publication Date: 2013-09

Variant appearance in text: ATP7B: E1064A

PubMed Link: 23846821

Variant Present in the following documents:

• Main text

View BVdb publication page

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Elucidation of the ATP7B N-domain Mg2+-ATP coordination site and its allosteric regulation.

Plos One

Hercend, Claude C; Bauvais, Cyril C; Bollot, Guillaume G; Delacotte, Nicolas N; Chappuis, Philippe P; Woimant, France F; Launay, Jean-Marie JM; Manivet, Philippe P

Publication Date: 2011

Variant appearance in text: ATP7B: E1064A

PubMed Link: 22046264

Variant Present in the following documents:

• pone.0026245.pdf

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Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.

The Journal Of Biological Chemistry

Dmitriev, Oleg Y OY; Bhattacharjee, Ashima A; Nokhrin, Sergiy S; Uhlemann, Eva-Maria E EM; Lutsenko, Svetlana S

Publication Date: 2011-05-06

Variant appearance in text: WND: E1064A

PubMed Link: 21398519

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Journal Of Medical Genetics

de Bie, P P; Muller, P P; Wijmenga, C C; Klomp, L W J LW

Publication Date: 2007-11

Variant appearance in text: ATP7B: E1064A

PubMed Link: 17717039

Variant Present in the following documents:

• Main text

View BVdb publication page

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