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Enfermedad de Wilson: experiencia de un centro de referencia en Colombia

Revista colombiana de gastroenterología, 2021-03, Vol.36 (1), p.51-57

2021

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Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease

Clinical genetics, 2023-08, Vol.104 (2), p.174-185

2023

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Correction: Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein

Metallomics, 2019-08, Vol.11 (8), p.1441-1441

2019

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Spectrum of ATP7B mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson Disease

Clinical genetics, 2017-07, Vol.92 (1), p.69-79

2017

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Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype

BMC medical genetics, 2020-06, Vol.21 (1), p.1-128, Article 128

2020

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MircroRNA-139 sensitizes ovarian cancer cell to cisplatin-based chemotherapy through regulation of ATP7A/B

Cancer chemotherapy and pharmacology, 2018-05, Vol.81 (5), p.935-947

2018

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WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s Disease

Scientific reports, 2020-06, Vol.10 (1), p.9037-9037, Article 9037

2020

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Diverse molecular phenotypes of ATP7B protein in Wilson disease: functional insights and therapeutic implications

Environmental and experimental biology, 2022-01, Vol.19 (4), p.185-202

Mukherjee, Shashwata

2022

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Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein

Metallomics, 2019-06, Vol.11 (6), p.1128-1139

2019

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Biochemical regulation and structural analysis of copper‐transporting ATPase in a human hepatoma cell line for Wilson disease

Journal of cellular biochemistry, 2019-11, Vol.120 (11), p.18826-18844

2019

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Copper binding leads to increased dynamics in the regulatory N-terminal domain of full-length human copper transporter ATP7B

PLoS computational biology, 2022-09, Vol.18 (9), p.e1010074-e1010074

2022

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Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease

Hepatitis monthly, 2011-11, Vol.11 (11), p.890-894

2011

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

Scientific reports, 2020-08, Vol.10 (1), p.13487-13487, Article 13487

2020

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Genetic, metabolic and cellular factors influencing intracellular localization of the Wilson disease protein, ATP7B

Molecular cytogenetics, 2014-01, Vol.7 (Suppl 1), p.P68-P68

2014

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Copper regulation disturbance linked to oxidative stress and cell death during Zika virus infection in human astrocytes

Journal of cellular biochemistry, 2022-12, Vol.123 (12), p.1997-2008

2022

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Disorders of Copper Metabolism in Children-A Problem too Rarely Recognized

Metabolites, 2024-01, Vol.14 (1), p.38

2024

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Copper chaperone Atox1 interacts with the metal-binding domain of Wilson's disease protein in cisplatin detoxification

Biochemical journal, 2013-08, Vol.454 (1), p.147-156

2013

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Toxic milk mice models of Wilson’s disease

Molecular biology reports, 2021-02, Vol.48 (2), p.1903-1914

2021

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Comprehensive and comparative exploration of the Atp7b -/- mouse plasma proteome

Metallomics, 2020-02, Vol.12 (2), p.249-258

2020

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Response of Fibroblasts from Menkes' and Wilson's Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase

Biomolecules (Basel, Switzerland), 2023-12, Vol.13 (12), p.1746

2023

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ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson’s Disease with Adrenocortical Insufficiency

Journal of molecular neuroscience, 2018, Vol.64 (1), p.20-28

2018

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Liver-specific Commd1 knockout mice are susceptible to hepatic copper accumulation

PloS one, 2011-12, Vol.6 (12), p.e29183-e29183

2011

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In Silico Evaluation of the ATP7B Protein: Insights from the Role of Rare Codon Clusters and Mutations that Affect Protein Structure and Function

Current proteomics, 2020, Vol.17 (3), p.213-226

2020

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Wilson Disease Presenting as Opsoclonus-Myoclonus Syndrome

Movement Disorder Emergencies, p.473-491

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

PloS one, 2011-10, Vol.6 (10), p.e26245-e26245

2011

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Enfermedad de Wilson: experiencia de un centro de referencia en Colombia

Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease

Correction: Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein

Spectrum of ATP7B mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson Disease

Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype

MircroRNA-139 sensitizes ovarian cancer cell to cisplatin-based chemotherapy through regulation of ATP7A/B

WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s Disease

Diverse molecular phenotypes of ATP7B protein in Wilson disease: functional insights and therapeutic implications

Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein

Biochemical regulation and structural analysis of copper‐transporting ATPase in a human hepatoma cell line for Wilson disease

Copper binding leads to increased dynamics in the regulatory N-terminal domain of full-length human copper transporter ATP7B

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease

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

Genetic, metabolic and cellular factors influencing intracellular localization of the Wilson disease protein, ATP7B

Copper regulation disturbance linked to oxidative stress and cell death during Zika virus infection in human astrocytes

Disorders of Copper Metabolism in Children-A Problem too Rarely Recognized

Copper chaperone Atox1 interacts with the metal-binding domain of Wilson's disease protein in cisplatin detoxification

Toxic milk mice models of Wilson’s disease

Comprehensive and comparative exploration of the Atp7b -/- mouse plasma proteome

Response of Fibroblasts from Menkes' and Wilson's Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase

ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson’s Disease with Adrenocortical Insufficiency

Liver-specific Commd1 knockout mice are susceptible to hepatic copper accumulation

In Silico Evaluation of the ATP7B Protein: Insights from the Role of Rare Codon Clusters and Mutations that Affect Protein Structure and Function

Wilson Disease Presenting as Opsoclonus-Myoclonus Syndrome

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

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