Results 41 to 50 of about 6,030 (184)

Clinical and genetic analysis of pediatric patients with Wilson disease

The Turkish Journal of Gastroenterology, 2015
Background/Aims: Wilson disease (WD, MIM# 277900) is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPase.
Özlenen Şimşek Papur, Sezin Aşık Akman, Orhan Terzioğlu   +2 more
doaj   +1 more source

CRISPR-targeted genome editing of human induced pluripotent stem cell-derived hepatocytes for the treatment of Wilson’s disease

JHEP Reports, 2022
Background & Aims: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism caused by loss-of-function mutations in ATP7B, which encodes a copper-transporting protein. It is characterized by excessive copper deposition in tissues,
Rui Wei, Jiayin Yang, Chi-Wa Cheng, Wai-In Ho, Na Li, Yang Hu, Xueyu Hong, Jian Fu, Bo Yang, Yuqing Liu, Lixiang Jiang, Wing-Hon Lai, Ka-Wing Au, Wai-Ling Tsang, Yiu-Lam Tse, Kwong-Man Ng, Miguel A. Esteban, Hung-Fat Tse   +17 more
doaj   +1 more source

Copper‐Driven Epithelial Barrier Disruption: A Novel Mechanism of COPD Acute Exacerbations Mediated by the TNF‐α/ATP7A Axis

Advanced Science, EarlyView.
This study reveals a copper‐driven mechanism of COPD acute exacerbations mediated by the TNF‐α/ATP7A axis. TNF‐α suppresses the copper transporter ATP7A via competitive NF‐κB/CREB1/CBP signaling, resulting in intracellular copper accumulation, mitochondrial oxidative stress, and epithelial barrier disruption.
Xinru Xiao, Yongzhe Hao, Ziqi Ding, Zhipeng Wang, Yujia Shi, Yanhua Huang, Chunjian Qi, Qian Zhang   +7 more
wiley   +1 more source

Geographic distribution of ATP7B mutations in Wilson disease

Annals of Human Biology, 2015
Geographic distribution of ATP7B mutations in different populations.To summarise common mutations in the ATP7B gene and graphically illustrate their prevalence in different populations.A literature search was done using PubMed and the Wilson Disease Mutation Database (http://www.wilsondisease.med.ualberta.ca/database).p.His1069Gln is the most prevalent
Amanda, Gomes, George V, Dedoussis
openaire   +2 more sources

EP300‐Mediated MTF1‐K218 Lactylation Buffers AR‐Driven Copper Overload to Suppress Cuproptosis in Castration‐Resistant Prostate Cancer

Advanced Science, EarlyView.
Androgen receptor (AR) drives copper accumulation in prostate cancer while inducing MTF1 to buffer copper toxicity. EP300‐mediated lactylation of MTF1 at K218 promotes its nuclear translocation and metallothionein expression, sequestering cytosolic copper and preventing mitochondrial cuproptosis.
Kai Li, Yong Wei, Yongshan Li, Yuxiang Dong, Jiancheng Lv, Mingzhi Yuan, Ao Shen, Fuyang Liu, Yetao Zhang, Youjian Li, Ruixi Yu, Yang Liu, Tong Zhao, Jun Wang, Kai Zhou, Zongyao Fan, Manning Wang, Jun Xu, Mulong Du, Min Gu, Bing Yao, Qingyi Zhu   +21 more
wiley   +1 more source

A State‐Gated Metallo‐DNAzyme Framework Programs Tumor Stress Vulnerability Through Metabolic Licensing

Advanced Science, EarlyView.
A tumor‐state‐gated metallo‐DNAzyme framework integrates miR‐21/APE1‐responsive GLUT1 silencing with Ca/Cu‐partitioned metal–nucleic acid assembly and cystine loading. The framework first weakens glucose‐dependent metabolic buffering and then amplifies copper‐ and disulfide‐associated stress, converting tumor metabolic adaptation into programmable ...
Xiaodong Ma, Lingyun He, Xinru Wang, Yuanyuan Wei, Chengcheng Li, Jiaqi Yan, Weijian Sun, Xian Shen, Hongbo Zhang   +8 more
wiley   +1 more source

ATP7B activity is stimulated by PKCɛ in porcine liver

The International Journal of Biochemistry & Cell Biology, 2014
Copper is necessary for all organisms since it acts as a cofactor in different enzymes, although toxic at high concentrations. ATP7B is one of two copper-transporting ATPases in humans, its vital role being manifested in Wilson disease due to a mutation in the gene that encodes this pump.
Cardoso, Luiza H. D., Britto Borges, Thiago, Vieyra, Adalberto, Lowe, Jennifer   +3 more
openaire   +3 more sources

MTF1 binds to metal‐responsive element e within the ATP7B promoter and is a strong candidate in regulating the ATP7B expression [PDF]

Annals of Human Genetics, 2019
AbstractWilson's disease is an autosomal recessive disorder resulting from copper excess. Some patients with clinical Wilson's disease symptoms exhibit no or only heterozygous pathogenic variants in the coding region of the disease‐causing ATP7B gene. Therefore, the ATP7B promoter region is of special interest.
Amelie Stalke, Eva‐Doreen Pfister, Ulrich Baumann, Thomas Illig, Eva Reischl, Maria Sandbothe, Beate Vajen, Nicole Huge, Brigitte Schlegelberger, Nils von Neuhoff, Britta Skawran   +10 more
openaire   +3 more sources

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

Molecular Genetics & Genomic Medicine, 2020
Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant, Aurelia Poujois, Adrien Bloch, Tabaras Jordi, Jean‐Louis Laplanche, Hélène Morel, Corinne Collet   +6 more
doaj   +1 more source

An ATP7A‐Mediated Endogenous Regulation Bio‐Clay Enzyme Enables Self‐Amplified Copper Accumulation for Immunogenic Pyrop

Advanced Science, EarlyView.
A self‐amplifying bio‐clay nanozyme (Bio‐Clayzyme) disrupts tumor metabolic homeostasis through endogenous copper transporter ATPase (ATP7A) downregulation, enhancing cascade catalysis and triggering immunogenic pyroptosis for effective tumor immunotherapy.
Weimin Xie, Yan Li, Guangyao Li, Ying Chen, Huaming Yang   +4 more
wiley   +1 more source