Stem Cell ResearchWilson disease (WD) is a rare autosomal recessive disease caused due to mutations in the ATP7B gene. Here, we describe the establishment of an induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells (PBMCs) of a WD ...
Bhaskar Jyoti Saikia +4 more
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Interactions between Copper-binding Sites Determine the Redox Status and Conformation of the Regulatory N-terminal Domain of ATP7B [PDF]
, 2009 Erik S LeShane +6 more
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A study of Mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in Wilson Disease patients [PDF]
, 2021 Jasodhara Chaudhuri +9 more
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Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy [PDF]
Takeshi Imai +37 more
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Mechanisms of charge transfer in human copper ATPases ATP7A and ATP7B [PDF]
, 2017 Francesco Tadini‐Buoninsegni +1 more
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Wilsons Disease: Diagnostic Approach
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015 Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by mutations in the ATP7B gene that encodes a P-type copper ATPase, ATP7B.
Hakan Gelincik, Filiz Koc
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Long-read sequencing of the ATP7B gene from Moroccan patients with suspected Wilson disease [PDF]
Nada El Makhzen +6 more
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Copper Subtype of Alzheimer Disease: A Genetic Study of ATP7B Frequency [PDF]
, 2015 Rosanna Squitti +8 more
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Sequence variation database for the Wilson disease copper transporter,ATP7B [PDF]
, 2007 Susan Kenney, Diane W. Cox
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The Effect of Zinc and D-Penicillamine in a Stable Human Hepatoma ATP7B Knockout Cell Line
, 2014 Gursimran Chandhok +5 more
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