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[Research progresses in gene therapy for hepatolenticular degeneration].

Zhonghua Gan Zang Bing Za Zhi

January 2025

Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei230022, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei230032, China Engineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, Hefei230032, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei230032, China Anhui Province Key Laboratory of Reproductive Disorders and Obstetrics and Gynecology Diseases, Hefei230032, China Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei230032, China Anhui Provincial Institute of Translational Medicine, Hefei230032, China.

Hepatolenticular degeneration, also known as Wilson's disease, is a type of autosomal recessive genetic disorder of copper metabolism. The causative gene, ATP7B, is located on the long arm of chromosome 13 and encodes a P-type ATPase that is involved in copper transport. Pathogenic mutations in the ATP7B gene sequence lead to the diminished or lost function of the ATP7B protein, resulting in pathological copper deposition in organs such as the liver, brain, kidneys, and cornea.

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Pregnancy with Wilson's Disease: A Case Series.

Mymensingh Med J

January 2025

Dr Mousumi Saha, Assistant Professor, Fetomaternal Medicine Subspeciality (FCPS) Course Student, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh; E-mail:

Wilson's disease is an autosomal recessive disorder that affects copper transport due to deficiency of ceruloplasmin and causes deposition of copper mainly in the liver, brain and cornea. It causes hepatic and/or neuropsychiatric manifestations. This copper deposition causes cirrhosis of the liver, encephalopathy and liver failure.

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Programmable and modular systems capable of orthogonal genomic and transcriptomic perturbations are crucial for biological research and treating human genetic diseases. Here, we present the minimal versatile genetic perturbation technology (mvGPT), a flexible toolkit designed for simultaneous and orthogonal gene editing, activation, and repression in human cells. The mvGPT combines an engineered compact prime editor (PE), a fusion activator MS2-p65-HSF1 (MPH), and a drive-and-process multiplex array that produces RNAs tailored to different types of genetic perturbation.

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