Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cel

• 作 者: Gursimran Chandhok Judit Horva
• 机 构: KlinikfurTransplantationsmedizin,InstitutfurHumangenetik,KokilabenDhirubhaiAmbaniHospitalandMedicalR
• 出 处: 世界胃肠病学杂志：英文版
• 发表日期: 2016年16期
• 关键词: ATP7B D-PENICILLAMINE ZINC MUTATIONS WILSON disease Therapy ATP7B D-penicillami

AIM: To study the effect of anti-copper treatment for survival of hepatic cells expressing different ATP7 B mutations in cell culture. METHODS: The most common Wilson disease(WD) mutations p.H1069 Q, p.R778 L and p.C271*, found in the ATP7 B gene encoding