نتایج جستجو برای: neurodegeneration with brain iron accumulation
تعداد نتایج: 9480785 فیلتر نتایج به سال:
Iron Regulatory Protein 2 (Irp2, Ireb2) is a central regulator of cellular iron homeostasis in vertebrates. Two global knockout mouse models have been generated to explore the role of Irp2 in regulating iron metabolism. While both mouse models show that loss of Irp2 results in microcytic anemia and altered body iron distribution, discrepant results have drawn into question the role of Irp2 in r...
Mortalin is a highly conserved heat-shock chaperone usually found in multiple subcellular locations. It has several binding partners and has been implicated in various functions ranging from stress response, control of cell proliferation, and inhibition/prevention of apoptosis. The activity of this protein involves different structural and functional mechanisms, and minor alterations in its exp...
[email protected] & [email protected] We would like to thank the reviewer for careful reading of the manuscript and the constructive comments and questions which have helped us to improve the manuscript. The reviewer comments are given below together with our responses and changes made to the manuscript. General Comments 5 This manuscript describes nighttime observations of OH and HO...
We investigate the oxidation of methacryloylperoxy nitrate (MPAN) and methacrylicperoxy acid (MPAA) by the hydroxyl radical (OH) theoretically, using both density functional theory [B3LYP] and explicitly correlated coupled cluster theory [CCSD(T)-F12]. These two compounds are produced following the abstraction of a hydrogen atom from methacrolein (MACR) by the OH radical. We use a RRKM master e...
Neurodegeneration with brain-iron accumulation (NBIA) encompasses a family of neurodegenerative disorders connected by evidence of abnormal brain iron deposition. Advances in imaging and genetic testing expanded the clinical spectrum of these disorders. Here, a case of parkinsonism and dystonia with orofacial stereotypies is presented. While the patient was initially diagnosed with Parkinson's ...
Pantothenate kinase 2 deficiency (previously known as Hallervorden-Spatz disease) is an unusual metabolic disorder characterized by progressive extrapyramidal dysfunction and dementia. A 27-year-old Caucasian presented with a major depression disorder and social phobia since adolescence. Patient had marked paranoia, auditory hallucinations, extrapyramidal dysfunction, poor memory, and gait abno...
Introduction Neurodegeneration with brain iron accumulation (NBIA) refers to a group of disorders that are characterized by iron accumulation, particularly in the basal ganglia (1). This process results in progressive dystonia, spasticity, Parkinsonism, neuropsychiatric abnormalities, optic atrophy or retinal degeneration. The worldwide prevalence of NBIA has been estimated at 1:1,000,000. The ...
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron deposition in the basal ganglia. The genetic basis of ten forms of NBIA is now known. The clinical features of NBIA range from rapid global neurodevelop...
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