Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. The clinical features include early-onset global developmental delay and further neurological deterioration (parkinsonism, dystonia, and dementia developing by early adulthood). Brain MRI revealed evidence of iron deposition in the substantia nigra and globus pallidus. Males and females are phenotypically similar, an observation that might be explained by somatic mosaicism in surviving males and germline or somatic mutations in females, as well as skewing of X chromosome inactivation. This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration.
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http://dx.doi.org/10.1016/j.ajhg.2012.10.019 | DOI Listing |
Sci Rep
December 2024
Department of Computer Engineering, Marwadi University, Rajkot, 360003, India.
The contributed absorber design in graphene addition with the displacement of three materials for resonator design in Aluminum (Al), the middle substrate position with Titanium nitride (TiN), and the ground layer deposition by Iron (Fe) respectively. For the absorption validation highlight, the best four absorption wavelengths (µm) of 0.29, 0.
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December 2024
Shenzhen Institute of Synthetic Biology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.
Iron is a potent biochemical, and accurate homeostatic control is orchestrated by a network of interacting players at multiple levels. Although our understanding of organismal iron homeostasis has advanced, intracellular iron homeostasis is poorly understood, including coordination between organelles and iron export into the ER/Golgi. Here, we show that SLC39A13 (ZIP13), previously identified as a zinc transporter, promotes intracellular iron transport and reduces intracellular iron levels.
View Article and Find Full Text PDFEcotoxicol Environ Saf
December 2024
School of Geography and Environmental Sciences, Guizhou Normal University, Guiyang 550025, China. Electronic address:
In aquatic environments, the deposition behaviors of nanoplastics (NPs) are closely associated with interfacial interaction between NPs and iron (hydr)oxides minerals, which are typically coupled with solution chemistry and organic matter. However, the roles of solution chemistry and organic matter in the deposition behavior of NPs with iron (hydr)oxides minerals and related interfacial interaction mechanism are still poorly understood. In this study, the deposition behaviors of carboxyl-modified polystyrene nanoparticles (COOH-PSNPs) with magnetite were systematically investigated.
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December 2024
Department of Neurosurgery, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China.
Intracerebral hemorrhage (ICH) is a common cerebrovascular disease characterized by a high incidence, disability rate, and mortality. Epigallocatechin gallate (EGCG), a key catechin compound found in green tea, has received increasing attention for its potential neuroprotective and therapeutic effects in neurological disorders. Studies have indicated that EGCG may influence various signaling pathways and molecular targets, including the inhibition of oxidative stress, reduction of inflammatory responses, suppression of cell apoptosis, regulation of cell survival, and enhancement of autophagy.
View Article and Find Full Text PDFChem Res Toxicol
December 2024
Department of Nephrology, Affiliated Hospital of Youjiang Medical University for Nationalities, Guangxi Zhuang Autonomous Region, Baise533000, China.
Ferroptosis is regarded as a promising cancer therapeutic target. As a major bioactive compound from traditional Chinese medicine (TCM) herb Aiton, oxymatrine (OMT) can depress inflammatory factors, reduce iron deposition, and suppress the hub gene or protein expression involved in ferroptosis and inflammation. Additionally, OMT can control collagen deposition in the liver and has a therapeutic effect on liver cancer.
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