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Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy

• Authors : Takeshi Imai; Satomi Mitsuhashi; Kenji Isahaya

Subjects: Genetics; QH426-470; Life

• Source: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)

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ATP7B R778L mutant hepatocytes resist copper toxicity by activating autophagy and inhibiting necroptosis

• Authors : Shan Tang; Chen Liang; Wei Hou

Subjects: Neoplasms. Tumors. Oncology. Including cancer and carcinogens; RC254-282; Cytology

• Source: Cell Death Discovery, Vol 9, Iss 1, Pp 1-11 (2023)

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Human glutaredoxin-1 can transfer copper to isolated metal binding domains of the P1B-type ATPase, ATP7B.

• Authors : Maghool, S; Fontaine, SL; Roberts, BR

Subjects: Journal Article

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Human glutaredoxin-1 can transfer copper to isolated metal binding domains of the P-1B-type ATPase, ATP7B

• Authors : Maghool, Shadi; La Fontaine, Sharon; Roberts, Blaine R.

Subjects: Science & Technology; Multidisciplinary Sciences; Science & Technology - Other Topics

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Human glutaredoxin-1 can transfer copper to isolated metal binding domains of the P1B-type ATPase, ATP7B

• Authors : Ann H. Kwan; Megan J. Maher; Sharon La Fontaine

Subjects: 0301 basic medicine; Multidisciplinary; 030102 biochemistry & molecular biology

• Source: Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)

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

• Authors : Höflich C; Biomedical Research Laboratory, 1st Department of Internal Medicine, University Hospital, Frankfurt, Germany.; Brieger A

Subjects: Transcription Initiation Site*; Copper/Copper/Copper/*blood ; Copper-Transporting ATPases/Copper-Transporting ATPases/Copper-Transporting ATPases/*genetics

• Source: Scientific reports [Sci Rep] 2021 Apr 07; Vol. 11 (1), pp. 7674. Date of Electronic Publication: 2021 Apr 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Systemic deletion of Atp7b modifies the hepatocytes' response to copper overload in the mouse models of Wilson disease.

• Authors : Muchenditsi A; Department of Physiology, Johns Hopkins Medical Institutes, 725 N Wolfe street, Baltimore, MD, 21205, USA.; Talbot CC Jr

Subjects: Gene Deletion*; Copper/Copper/Copper/*toxicity ; Copper-Transporting ATPases/Copper-Transporting ATPases/Copper-Transporting ATPases/*genetics

• Source: Scientific reports [Sci Rep] 2021 Mar 11; Vol. 11 (1), pp. 5659. Date of Electronic Publication: 2021 Mar 11.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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

• Authors : Roy S; Department of Physiology, Johns Hopkins Medical Institute, Baltimore, MD, USA. .; S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India. .

Subjects: Copper-Transporting ATPases/Copper-Transporting ATPases/Copper-Transporting ATPases/*genetics ; Hepatolenticular Degeneration/Hepatolenticular Degeneration/Hepatolenticular Degeneration/*genetics; Adenosine Triphosphatases/Adenosine Triphosphatases/Adenosine Triphosphatases/metabolism

• Source: Scientific reports [Sci Rep] 2020 Aug 10; Vol. 10 (1), pp. 13487. Date of Electronic Publication: 2020 Aug 10.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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

• Authors : Parisi S; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy. .; Polishchuk EV

• Source: Scientific reports [Sci Rep] 2020 Jun 23; Vol. 10 (1), pp. 10476. Date of Electronic Publication: 2020 Jun 23.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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

• Authors : Parisi S; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy. .; Polishchuk EV

Subjects: Polymorphism, Single Nucleotide*; Copper-Transporting ATPases/Copper-Transporting ATPases/Copper-Transporting ATPases/*genetics ; Hepatocytes/Hepatocytes/Hepatocytes/*pathology

• Source: Scientific reports [Sci Rep] 2018 Apr 19; Vol. 8 (1), pp. 6247. Date of Electronic Publication: 2018 Apr 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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