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Metabolic dysregulation in the Atp7b −/− Wilson’s disease mouse model

Proceedings of the National Academy of Sciences - PNAS, 2020-01, Vol.117 (4), p.2076-2083

2020

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The dilemma to diagnose Wilson disease by genetic testing alone

European journal of clinical investigation, 2019-08, Vol.49 (8), p.e13147-n/a

2019

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Diverse Functional Properties of Wilson Disease ATP7B Variants

Gastroenterology (New York, N.Y. 1943), 2012-04, Vol.142 (4), p.947-956.e5

2012

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Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation

Liver international, 2011-01, Vol.31 (1), p.83-91

2011

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Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines

World journal of gastroenterology : WJG, 2016-04, Vol.22 (16), p.4109-4119

2016

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Copper Inhibits the AlkB Family DNA Repair Enzymes under Wilson’s Disease Condition

Chemical research in toxicology, 2017-10, Vol.30 (10), p.1794-1796

2017

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Considerations for optimizing Wilson's disease patients' long-term follow-up

Gastroenterología y hepatología, 2022-02, Vol.45 (2), p.146-154

2022

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Disorders in Hepatic Copper Secretion: Wilson's Disease and Pleomorphic Syndromes

Seminars in liver disease, 2017-05, Vol.37 (2), p.175-188

2017

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Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort

Liver international, 2011-07, Vol.31 (6), p.831-839

2011

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Copper in disorders with neurological symptoms: Alzheimer’s, Menkes, and Wilson diseases

Brain research bulletin, 2001-05, Vol.55 (2), p.175-185

2001

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Automation of o-dianisidine assay for ceruloplasmin activity analyses: usefulness of investigation in Wilson’s disease and in hepatic encephalopathy

Journal of Neural Transmission, 2014-10, Vol.121 (10), p.1281-1286

2014

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Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease

BMC gastroenterology, 2010-01, Vol.10 (1), p.8-8, Article 8

2010

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The Role of Copper in Neurodegenerative Disease

Neurobiology of Disease, 1999-08, Vol.6 (4), p.221-230

1999

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Abnormal deposition of collagen around hepatocytes in Wilson's disease is associated with hepatocyte specific expression of lysyl oxidase and lysyl oxidase like protein-2

Journal of hepatology, 2005-09, Vol.43 (3), p.499-507

2005

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A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways

Metallomics, 2018-03, Vol.10 (3), p.378-387

2018

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Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson’s disease

Journal of hepatology, 2009-11, Vol.51 (5), p.925-930

2009

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Tracing Copper−Thiomolybdate Complexes in a Prospective Treatment for Wilson’s Disease

Biochemistry (Easton), 2009-02, Vol.48 (5), p.891-897

2009

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The Overuse of Serum Ceruloplasmin Measurement

The American journal of medicine, 2013-10, Vol.126 (10), p.926.e1-926.e5

2013

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Genotype–phenotype correlation in Italian children with Wilson’s disease

Journal of hepatology, 2009-03, Vol.50 (3), p.555-561

2009

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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, 2011-05, Vol.286 (18), p.16355-16362

2011

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ATP7B Gene Mutations in Croatian Patients with Wilson Disease

Genetic testing and molecular biomarkers, 2016-03, Vol.20 (3), p.112-117

2016

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Defining Wilson Disease Phenotypes: From the Patient to the Bench and Back Again

Gastroenterology (New York, N.Y. 1943), 2012-04, Vol.142 (4), p.692-696

2012

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Intracellular targeting of copper-transporting ATPase ATP7A in a normal and Atp7b-/- kidney

American journal of physiology. Renal physiology, 2008-01, Vol.294 (1), p.F53-F61

2008

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Solution Structures of the Actuator Domain of ATP7A and ATP7B, the Menkes and Wilson Disease Proteins

Biochemistry (Easton), 2009-08, Vol.48 (33), p.7849-7855

2009

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Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

American journal of human genetics, 1997-08, Vol.61 (2), p.317-328

1997

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Metabolic dysregulation in the Atp7b −/− Wilson’s disease mouse model

The dilemma to diagnose Wilson disease by genetic testing alone

Diverse Functional Properties of Wilson Disease ATP7B Variants

Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation

Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines

Copper Inhibits the AlkB Family DNA Repair Enzymes under Wilson’s Disease Condition

Considerations for optimizing Wilson's disease patients' long-term follow-up

Disorders in Hepatic Copper Secretion: Wilson's Disease and Pleomorphic Syndromes

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort

Copper in disorders with neurological symptoms: Alzheimer’s, Menkes, and Wilson diseases

Automation of o-dianisidine assay for ceruloplasmin activity analyses: usefulness of investigation in Wilson’s disease and in hepatic encephalopathy

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease

The Role of Copper in Neurodegenerative Disease

Abnormal deposition of collagen around hepatocytes in Wilson's disease is associated with hepatocyte specific expression of lysyl oxidase and lysyl oxidase like protein-2

A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways

Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson’s disease

Tracing Copper−Thiomolybdate Complexes in a Prospective Treatment for Wilson’s Disease

The Overuse of Serum Ceruloplasmin Measurement

Genotype–phenotype correlation in Italian children with Wilson’s disease

Difference in Stability of the N-domain Underlies Distinct Intracellular Properties of the E1064A and H1069Q Mutants of Copper-transporting ATPase ATP7B

ATP7B Gene Mutations in Croatian Patients with Wilson Disease

Defining Wilson Disease Phenotypes: From the Patient to the Bench and Back Again

Intracellular targeting of copper-transporting ATPase ATP7A in a normal and Atp7b-/- kidney

Solution Structures of the Actuator Domain of ATP7A and ATP7B, the Menkes and Wilson Disease Proteins

Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

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