Structures of the human Wilson disease copper transporter ATP7B
Cell Reports, 2023 Summary: The P-type ATPase ATP7B exports cytosolic copper and plays an essential role in the regulation of cellular copper homeostasis. Mutants of ATP7B cause Wilson disease (WD), an autosomal recessive disorder of copper metabolism.
Zhi-Ying Wu
exaly +5 more sources
TFEB Regulates ATP7B Expression to Promote Platinum Chemoresistance in Human Ovarian Cancer Cells
Cells, 2022 ATP7B is a hepato-specific Golgi-located ATPase, which plays a key role in the regulation of copper (Cu) homeostasis and signaling. In response to elevated Cu levels, ATP7B traffics from the Golgi to endo-lysosomal structures, where it sequesters excess ...
Roman Polishchuk +2 more
exaly +3 more sources
Wilson disease is a single gene disorder – comprehensive analysis of patients with prior negative genetic testing [PDF]
JHEP ReportsBackground & Aims: Wilson disease (WD) is an autosomal recessive disorder caused by damaging ATP7B variants. Up to 20% of clinically diagnosed cases remain genetically unexplained.
Dorte L. Lildballe +10 more
doaj +2 more sources
Wilson disease associated with a novel variant in the ATP7B gene [PDF]
Frontiers in NeurologyIntroductionWilson disease is an autosomal recessive monogenic disorder caused by mutations in the copper-transporting P-type ATPase beta gene (ATP7B) located on human chromosome 13. This gene encodes copper-transporting P-type ATPase.
Lipeng Yang +3 more
doaj +2 more sources
Renal salt-wasting syndrome with tubular copper deposition in a heterozygous ATP7B carrier: a case report [PDF]
BMC NephrologyBackground ATP7B mutations classically lead to Wilson’s disease, characterized by hepatic and neurological involvement due to systemic copper overload. However, renal-limited phenotypes are extremely rare, easily overlooked and clinically diverse.
Lin Lin +7 more
doaj +2 more sources
ATP7B-maintained copper stores in myeloid progenitors are required for functional maturation of neutrophils [PDF]
Cell ReportsSummary: Copper (Cu) is essential for innate immunity; however, how neutrophils regulate Cu homeostasis to support their functions remains unclear. We found that myeloid progenitors express abundant Cu-transporter ATP7B targeted to distinct vesicles and ...
Som Dev +10 more
doaj +2 more sources
Regulation of murine copper homeostasis by members of the COMMD protein family
Disease Models & Mechanisms, 2021 Copper is an essential transition metal for all eukaryotes. In mammals, intestinal copper absorption is mediated by the ATP7A copper transporter, whereas copper excretion occurs predominantly through the biliary route and is mediated by the paralog ATP7B.
Amika Singla +9 more
doaj +1 more source
Cells, 2021 Macroautophagy/autophagy plays an important role in cellular copper clearance. The means by which the copper metabolism and autophagy pathways interact mechanistically is vastly unexplored.
Supansa Pantoom +7 more
doaj +1 more source
BMC Medical Genomics, 2023 Background ATP7B is a copper-transporting protein that contributes to the chemo-resistance of human cancer cells. It remains unclear what the molecular mechanisms behind ATP7B are in cancer, as well as its role in human pan-cancer studies.
Zhanzhan Zhang +4 more
doaj +1 more source
Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice
Molecular Therapy: Methods & Clinical Development, 2022 Wilson disease (WD) is a genetic disorder of copper homeostasis, caused by deficiency of the copper transporter ATP7B. Gene therapy with recombinant adeno-associated vectors (AAV) holds promises for WD treatment. However, the full-length human ATP7B gene
Agnese Padula +14 more
doaj +1 more source