Results 51 to 60 of about 8,657 (242)

Lead exposure disturbs ATP7B-mediated copper export from brain barrier cells by inhibiting XIAP-regulated COMMD1 protein degradation

Ecotoxicology and Environmental Safety, 2023
The brain barrier is an important structure for metal ion homeostasis. According to studies, lead (Pb) exposure disrupts the transportation of copper (Cu) through the brain barrier, which may cause impairment of the nervous system; however, the specific ...
Yang Liu, Zai-Hua Zhao, Tao Wang, Jin-Yu Yao, Wen-Qing Wei, Li-Hong Su, Shuang-Shuang Tan, Zi-Xuan Liu, Han Song, Jing-Yuan Chen, Wei Zheng, Wen-Jing Luo, Gang Zheng   +12 more
doaj   +1 more source

Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

International Journal of Molecular Sciences
Wilson’s disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver, brain, and other organs. The disease is caused by pathogenic variants in the ATP7B gene, which encodes a P-type copper transport ATPase ...
E. Ovchinnikova, M. Garbuz, A. Ovchinnikova, V. Kumeiko   +3 more
semanticscholar   +1 more source

Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson DiseaseSummary

Cellular and Molecular Gastroenterology and Hepatology
Background & Aims: The association between Wilson disease and various ATP7B mutations is well-established; however, the molecular mechanism underlying the functional consequence of these mutations, particularly the splicing mutations, remains unclear.
Donghu Zhou, Huaduan Zi, Xiaoxi Yang, Xiaojin Li, Yanmeng Li, Anjian Xu, Bei Zhang, Wei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Hong You   +11 more
doaj   +1 more source

A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes

Genes, 2022
Our aim was to analyze the phenotypic-genetic correlations in a patient diagnosed with early onset corticobasal syndrome with progressive non-fluent aphasia (CBS-PNFA), characterized by predominant apraxia of speech, accompanied by prominent right-sided ...
K. Gaweda-Walerych, E. Sitek, Małgorzata Borczyk, E. Narożańska, B. Brockhuis, M. Korostyński, M. Schinwelski, M. Siemiński, J. Sławek, C. Żekanowski   +9 more
semanticscholar   +1 more source

CircSpna2 attenuates cuproptosis by mediating ubiquitin ligase Keap1 to regulate the Nrf2‐Atp7b signalling axis in depression after traumatic brain injury in a mouse model

Clinical and Translational Medicine
Background Depression is a common but often overlooked consequence in individuals with post‐traumatic brain injury (TBI). Circular RNAs (circRNAs) play essential roles in the nervous system, yet their involvement in the cell death mechanism known as ...
Mengran Du, Jiayuanyuan Fu, Jie Zhang, Ziyu Zhu, Xuekang Huang, Weilin Tan, Lian Liu, Zhijian Huang, Xin Liu, Qiuhao Tan, Z. Liao, Yuan Cheng   +11 more
semanticscholar   +1 more source

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

Psychiatric Symptoms in Wilson’s Disease—Consequence of ATP7B Gene Mutations or Just Coincidence?—Possible Causal Cascades and Molecular Pathways

International Journal of Molecular Sciences
Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. The genetic defect in WD affects the ATP7B gene, which encodes the ATP7B transmembrane protein, which is essential for maintaining normal copper homeostasis in the body. It is
Grażyna Gromadzka, A. Antos, Zofia Sorysz, T. Litwin   +3 more
semanticscholar   +1 more source

Role of Atp7b Gene in Spontaneous and N‐Diethylnitrosamine‐induced Carcinogenesis in a New Congenic Strain, WKAH.C‐Atp7b Rats [PDF]

Japanese Journal of Cancer Research, 2001
To examine whether Long‐Evans Cinnamon (LEC) rats, a mutant rat model of Wilson's disease, have a susceptibility gene(s) to hepatocarcinogenesis in addition to the causative gene, Atp7b, we established a new congenic strain, WKAH.C‐Atp7b rats, in which the Atp7b gene of the LEG rats is inserted into the normal Wistar‐King Aptekman Hokkaido (WKAH ...
Minami, Takanori, Kaneda, Shinya, Otsuka, Toshihiro, Jiao, Zhongxian, Suzuki, Yasuo, Yamada, Takahisa, Matsumoto, Kozo, Izumi, Keisuke   +7 more
openaire   +2 more sources

Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson’s disease

Stem Cell Research, 2020
Wilson’s disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson’s disease is caused by mutations in the ATP7B gene. Over 300 mutations of ATP7B have been described.
A.A. Malakhova, E.V. Grigor'eva, O.Yu. Vasilyeva, D.I. Zhigalina, N.A. Skryabin, A.A. Sivtcev, N.A. Kolesnikov, A.O. Bueverov, I.N. Lebedev, P.O. Bogomolov, S.M. Zakian   +10 more
doaj   +1 more source

A Universal Metal–Flavonoid Coating Strategy: Engineering Biomaterials for Diabetic Bone Regeneration

Advanced Science, EarlyView.
Construction of metal–flavonoid functionalized coatings on conventional bone repair materials. A one‐pot method is used to directly construct multifunctional metal–flavonoid coatings on the surface of traditional bone repair materials by selecting metal ions with osteogenic/angiogenic properties and flavonoids with reactive oxygen species scavenging ...
Chen Yang, Chenle Dong, Lefeng Su, Zhiqiang Liu, Lingyi Hu, Qishu Jin, Hao Chen, Chunlong Zhang, Yihao Wu, Jiang Chang, Zhaowenbin Zhang, Jiandong Yuan   +11 more
wiley   +1 more source