A5032814461- Trace Elements in Health
- Heavy Metal Exposure and Toxicity
- Iron Metabolism and Disorders
- Aluminum toxicity and tolerance in plants and animals
- Acute Ischemic Stroke Management
- Multiple Sclerosis Research Studies
- Nerve injury and regeneration
- Neuroinflammation and Neurodegeneration Mechanisms
- Protease and Inhibitor Mechanisms
- Atherosclerosis and Cardiovascular Diseases
- Cerebrovascular and Carotid Artery Diseases
- RNA regulation and disease
- Stroke Rehabilitation and Recovery
- Chromium effects and bioremediation
- Parkinson's Disease Mechanisms and Treatments
- Cerebrovascular and genetic disorders
- Reproductive tract infections research
- Neurological diseases and metabolism
- Calpain Protease Function and Regulation
- Electrochemical Analysis and Applications
- Antibiotic Use and Resistance
- Neurological Disorders and Treatments
- Diverticular Disease and Complications
- Medicinal Plants and Bioactive Compounds
- Hematopoietic Stem Cell Transplantation
Cardinal Stefan Wyszyński University in Warsaw
2019-2025
Institute of Psychiatry and Neurology
2006-2015
Medical University of Warsaw
2001-2014
University College London
2013
University of London
2013
National Institute on Aging
2013
Uppsala University Hospital
2013
Fu Wai Hospital
2013
Copenhagen University Hospital
2013
London School of Hygiene & Tropical Medicine
2013
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical phenotype the varied. It proposed that this variation may be a result differential functional disruption ATPase7B (ATP7B) resulting from mutations in gene ATP7B . We aimed to assess relationship between specific mutational defects and divergence phenotypic expression WD. One hundred forty‐two patients with clinically, biochemically genetically diagnosed WD were included study. was compared different...
Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of copper-transporting protein adenosine triphosphatase 7B (ATP-ase 7B). The caused mutations in ATP7B gene. It seems that type mutation only to some degree determines phenotypic manifestation WD. We examined two pairs monozygotic twins discordant for WD phenotype. first set were compound heterozygotes c.3207C>A (p.H1069Q)/c.1211_1212insA (p.N404Kfs). index case developed severe liver failure...
The clinical symptoms of Wilson's disease (WD) usually develop between 3 and 40 years age include signs liver and/or neurologic psychiatric disease. We report on an 84-year-old woman with WD. Despite the absence treatment, only symptom she presented with, until 74 years, was Kayser-Fleisher rings. At 74, developed slightly abnormal function. This case raises following issues: (a) Should WD be considered in all patients ages who manifest related to disease? (b) Are ATP7B mutations fully...
Gender influence on the clinical manifestations of Wilson's Disease (WD) has been suggested; however, brain MRI pathology based sexual dimorphism in WD not yet examined. The aim this study was to analyse effect gender according predominant form WD. We retrospectively analysed MR images 204 newly diagnosed and untreated patients. disease neuropsychiatric (n = 105), hepatic 67) or presymptomatic 32). Overall, neuroimaging pathologies were found 64.2 % analysis revealed significant...
Significance Wilson disease (WD) is a disorder of copper overload whose variable presentation poses diagnostic and treatment challenges. WD caused by mutations in ATP7B, transporter that loads Cu(I) onto newly synthesized cupro-enzymes the trans -Golgi network (TGN) exports excess trafficking from TGN to plasma membrane. This multidisciplinary study established patient mutation, ATP7B-S653Y, has transport activity TGN, but completely disrupts Cu(I)-responsive trafficking. ATP7B-S653Y...
We compared the effect of p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on phenotypic expression Wilson's disease (WD), assessed whether clinical phenotype WD compound heterozygotes depends type coexisting with p.H1069Q. One hundred forty-two patients clinically, biochemically, genetically diagnosed were studied. The mutational analysis was performed by direct sequencing. A total number 26 identified. p.His1069Gln most common (allelic frequency: 72%). Seventy-three homozygous...
The inflammatory reaction and oxidative stress has been linked with PD. Proinflammatory cytokines promote neurodegeneration or neuroprotection in different animal models. In addition, these have reported to increase iNOS expression. With the RT-PCR method we evaluated mRNA levels for IL 1beta, IL6, TNF, IFNgamma, IL-10 striatum of C57BL/6 mice after MPTP intoxication. IL1beta expression rapidly increased peaked at 6 h. first TNFalpha IFNgamma was noticed 6-24 h second 7th day Two peaks IL10...
One of the important mechanisms involved in development vascular lesions leading to ischemic stroke could be an immune response heat shock proteins (hsp). For carotid atherosclerosis and myocardial infarction, association with increase anti-hsp 65 antibodies has been demonstrated. The aim our study was (1) investigate whether is associated a humoral hsp; (2) connection between other risk factors; (3) estimate if elevated levels independent factor for stroke. We examined 180 patients (in...