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

In VivoModeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease

(2017) Stephen W. Mercer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Human copper transporter ATP7B (Wilson disease protein) forms stable dimersin vitroand in cells

(2017) Samuel Jayakanthan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach

(2017) Ja-Hyun Jang et al.   JOURNAL OF HUMAN GENETICS

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

(2017) Fiore Manganelli et al.   NEUROLOGY

Disease modeling studies using induced pluripotent stem cells: are we using enough controls?

(2017) Adiv A Johnson et al.   Regenerative Medicine

CRISPR-Cas9 Targeting ofPCSK9in Human Hepatocytes In Vivo—Brief ReportSignificance

(2016) Xiao Wang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants

(2016) Giancarlo Chesi et al.   HEPATOLOGY

The emerging role of lysosomes in copper homeostasis

(2016) Elena V. Polishchuk et al.   Metallomics

Functional analysis and drug response to zinc and D-penicillamine in stableATP7Bmutant hepatic cell lines

(2016) Gursimran Chandhok et al.   WORLD JOURNAL OF GASTROENTEROLOGY

Geographic distribution of ATP7B mutations in Wilson disease

(2015) Amanda Gomes et al.   ANNALS OF HUMAN BIOLOGY

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

(2014) Elena V. Polishchuk et al.   DEVELOPMENTAL CELL

ER Reorganization is Remarkably Induced in COS-7 Cells Accumulating Transmembrane Protein Receptors Not Competent for Export from the Endoplasmic Reticulum

(2014) Massimo D’Agostino et al.   JOURNAL OF MEMBRANE BIOLOGY

A genetic study of Wilson’s disease in the United Kingdom

(2013) Alison J. Coffey et al.   BRAIN

Long-term Outcomes of Patients With Wilson Disease in a Large Austrian Cohort

(2013) Sandra Beinhardt et al.   Clinical Gastroenterology and Hepatology

Rescuing Mutant CFTR: A Multi-task Approach to a Better Outcome in Treating Cystic Fibrosis

(2013) Margarida D. Amaral et al.   CURRENT PHARMACEUTICAL DESIGN

The cytosolic chaperone  -crystallin B rescues folding and compartmentalization of misfolded multispan transmembrane proteins

(2013) M. D'Agostino et al.   JOURNAL OF CELL SCIENCE

Diverse Functional Properties of Wilson Disease ATP7B Variants

(2012) Dominik Huster et al.   GASTROENTEROLOGY

Establishment of hepatic and neural differentiation platforms of Wilson’s disease specific induced pluripotent stem cells

(2012) Fei Yi et al.   Protein & Cell

Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin

(2011) Shiqiang Zhang et al.   HUMAN MOLECULAR GENETICS

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

(2011) Oleg Y. Dmitriev et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

Centrosomal aggregates and Golgi fragmentation disrupt vesicular trafficking of DAT

(2011) Francisco J. Diaz-Corrales et al.   NEUROBIOLOGY OF AGING

CFTR: folding, misfolding and correcting the ΔF508 conformational defect

(2011) Gergely L. Lukacs et al.   TRENDS IN MOLECULAR MEDICINE

Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

(2010) Emanuele Nicastro et al.   HEPATOLOGY

Functional Cardiomyocytes Derived From Human Induced Pluripotent Stem Cells

(2009) Jianhua Zhang et al.   CIRCULATION RESEARCH

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin

(2009) Peter V. E. van den Berghe et al.   HEPATOLOGY

Highly efficient generation of human hepatocyte-like cells from induced pluripotent stem cells

(2009) Karim Si-Tayeb et al.   HEPATOLOGY

Diagnosis and treatment of Wilson disease: An update

(2008) Eve A. Roberts et al.   HEPATOLOGY