Results 201 to 210 of about 8,657 (242)

A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report. [PDF]

Medicine (Baltimore)
Han M, Yang Z.
europepmc   +1 more source

The results of ATP7B gene screening in 38,158 neonates and the clinical and variants characteristics of 14 cases with Wilson’s disease

Ou Jiang, Y. Zhang, Guiping Liu, Yilin Lin, Hui Zhou, Mengxian Liu, Hongying Mi   +6 more
openalex   +1 more source

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by <i>AP1S1</i> and <i>AP1B1</i> mutations. [PDF]

Front Neurol
Wu R, Luo X, Wang XP.
europepmc   +1 more source

Re-examining the Diagnostic Criteria for Wilson's Disease: A Case Report and Literature Review. [PDF]

Cureus
Hummel L, Carr C, Biow S, Asher K, Sauer T, Maylin M.   +5 more
europepmc   +1 more source

Copper Homeostasis, Emerging Central Players in Cancer Immunotherapy. [PDF]

J Cell Mol Med
Chen C, Peng M, Liang S, Li C, Zhu L, Yang Y, Li L, Xue W.   +7 more
europepmc   +1 more source

Atp7b deficiency induces zebrafish eye developmental defects.

Metallomics, 2023
As a copper (Cu) transport ATPase, ATP7B plays an important role in maintaining Cu homeostasis in the body and its dysfunction is associated with retinal disease.
You Wu, Wenye Liu, LingYa Li, Zhipeng Tai, Bao-An Gao, Jing-Xia Liu   +5 more
semanticscholar   +3 more sources

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Copper‐independent lysosomal localisation of the Wilson disease protein ATP7B

Traffic, 2023
In hepatocytes, the Wilson disease protein ATP7B resides on the trans‐Golgi network (TGN) and traffics to peripheral lysosomes to export excess intracellular copper through lysosomal exocytosis. We found that in basal copper or even upon copper chelation,
Saptarshi Maji, Marinella Pirozzi, Ruturaj, Raviranjan Pandey, Tamal Ghosh, Santanu Das, Arnab Gupta   +6 more
semanticscholar   +4 more sources