A5026399324- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Trace Elements in Health
- Amyotrophic Lateral Sclerosis Research
- Alcoholism and Thiamine Deficiency
- Alzheimer's disease research and treatments
- Amino Acid Enzymes and Metabolism
- RNA regulation and disease
- Folate and B Vitamins Research
- Porphyrin Metabolism and Disorders
- Lysosomal Storage Disorders Research
- Immunodeficiency and Autoimmune Disorders
- Child Nutrition and Feeding Issues
- Organ and Tissue Transplantation Research
- Pneumocystis jirovecii pneumonia detection and treatment
- Blood donation and transfusion practices
- Polysaccharides and Plant Cell Walls
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Cancer survivorship and care
- Food composition and properties
- Viral Infectious Diseases and Gene Expression in Insects
- Genetics and Neurodevelopmental Disorders
- Skin and Cellular Biology Research
- Nuclear Structure and Function
- COVID-19 Impact on Reproduction
Film Independent
2023
American Red Cross
2003-2016
United States Food and Drug Administration
2011
University of Edinburgh
2011
Rocky Mountain Research (United States)
2009
Colorado Parks and Wildlife
2009
State University of New York
2009
University of Wyoming
1997-2009
Adlyfe (United States)
2007
Phillips Exeter Academy
2007
The PRNP gene, encoding the amyloid precursor protein that is centrally involved in Creutzfeldt-Jakob disease (CJD), has an unstable region of five variant tandem octapeptide coding repeats between codons 51 and 91. We screened a total 535 individuals for presence extra this region, including patients with sporadic familial forms spongiform encephalopathy, members their families, other neurological non-neurological patients, normal controls. identified three CJD families (in each which...
BACKGROUND: Solid evidence from experimentally infected animals and fragmentary naturally humans indicate that blood may contain low levels of the infectious agent Creutzfeldt‐Jakob disease (CJD), yet components have never been identified as a cause CJD in humans. STUDY DESIGN AND METHODS: Blood plasma fractions were prepared pooled mice had earlier with mouse‐adapted strain human transmissible spongiform encephalopathy (TSE). Infectivity bioassays conducted healthy mice, brains all assay...
Abstract Chronic wasting disease (CWD) is a transmissible spongiform encephalopathy, or prion disease, that affects deer, elk, and moose. Human susceptibility to CWD remains unproven despite likely exposure CWD-infected cervids. We used 2 nonhuman primate species, cynomolgus macaques squirrel monkeys, as human models for susceptibility. was inoculated into these species by intracerebral oral routes. After inoculation of 7 8 isolates induced clinical syndrome within 33–53 months. The monkeys'...
The PRNP polymorphic (methionine/valine) codon 129 genotype influences the phenotypic features of transmissible spongiform encephalopathy. All tested cases new variant Creutzfeldt-Jakob disease (nvCJD) have been homozygous for methionine, and it is conjectural whether different genotypes, if they appear, might distinctive phenotypes implications future "epidemic curve" nvCJD. Genotype-phenotype studies kuru, only other orally transmitted encephalopathy, be instructive in predicting answers...
BACKGROUND: The possible transmission of variant CJD (vCJD) through blood transfusion or use plasma‐derived products prompted this study comparing infectivity in murine models vCJD and Gerstmann‐Sträussler‐Scheinker (GSS) disease, a non‐vCJD form transmissible spongiform encephalopathy (TSE). STUDY DESIGN AND METHODS: RIII/Fa/Dk (RIII) Swiss‐Webster (Swiss) mice were inoculated intracerebrally (IC) with mouse‐adapted strains GSS (Fukuoka‐1) similar infectivity. Groups RIII euthanized 17...
We tested DNA from 15 centrally infected cases of iatrogenic Creutzfeldt-Jakob disease (CJD) (dura mater or corneal homografts and stereotactic EEG electrodes), 11 peripherally (native human growth hormone gonadotrophin), 110 control individuals for the presence mutations in chromosome 20 amyloid gene. No patient had any known pathogenic point insert found familial disease, but allelic homozygosity at polymorphic codon 129 was present all two (92%) 26 patients, compared with 54 (50%)...
We present new data on the original Austrian kindred with Gerstmann‐Sträussler‐Scheinker disease (GSS) which encompasses currently 221 members in 9 generations. The mode of inheritance is autosomal dominant. Predominant clinical features are slowly progressive ataxia and late impairment higher cerebral functins. In contrast, a recent case proven P102L mutation PRNP gene had rapidly developing dementia severe cortical damage indistinguishable from clinicopathological phenotype...
Kuru reached epidemic proportions by the mid-twentieth century among Fore people of New Guinea and disappeared after abolition cannibalistic rituals. To determine susceptibility to kuru its role in spread elimination epidemic, we analyzed PRNP gene coding sequences 5 patients; no germline mutations were found. Analysis 129 methionine (M)/valine (V) polymorphism 80 patients 95 unaffected controls demonstrated that preferentially affected individuals with M/M genotype. A higher representation...
Abstract We recently discovered an amino acid–altering heterozygous mutation in codon 178 of the PRNP amyloid precursor gene patients with familial Creutzfeldt‐Jakob disease. This is now shown to be associated occurence disease 7 unrelated families Western European origin, among which a total 65 members are known have died from The was detected each 17 tested patients, including at least 1 affected member family, and 16 36 their first‐degree relatives, but not other mutations, patietns...
The development of variant Creutzfeldt-Jakob disease (vCJD) in three recipients non-leukoreduced red blood cells from asymptomatic donors who subsequently developed the has confirmed existing concerns about possible spread transmissible spongiform encephalopathies (TSEs) via products. In addition, presence disease-associated misfolded prion protein (PrPTSE), generally associated with infectivity, been demonstrated vCJD patients. However, its origin and distribution this biological fluid are...
We report here results of modern staining techniques including anti-prion protein (PrP) immunocytochemistry to a set archival brain specimens 16 year-old male who died from kuru in 1967. Brain suspensions transmitted disease chimpanzees and New World monkeys. The PrP gene is homozygous for valine at the polymorphic codon 129. Histology shows neuronal loss, spongiform change, astrogliosis. Lesions are maximal parasagittal interhemispheric areas frontal, central parietal cortex, cingulate...
Fatal familial insomnia (FFI) is an inherited prion disease characterized by progressive and dysautonomia with only modest cognitive impairment early in the disease, associated atrophy gliosis medial thalamus, but without spongiform change. FFI aspartic acid to asparagine mutation at codon 178 of PrP gene (D178N) conjunction methionine 129 polymorphic site on mutant allele (cis-129M). We report a pedigree this genotype which marked clinicopathologic phenotypic heterogeneity occurred...
The three major influences on the phenotype of transmissible spongiform encephalopathies are believed to be strain agent, route infection and host genotype. We have compared pathologic profiles genotypes new variant Creutzfeldt‐Jakob disease (vCJD) kuru. comparison reveals that there distinct lesional differences particularly in prion protein (PrP) load distribution as seen by immunohistochemistry. clinico‐pathologic phenotypes these two diseases sufficiently different suggest agent may play...
We report a 42-year-old man who, for 8 months, had intermittent motor abnormalities and mild difficulty falling asleep. A diagnosis of fatal familial insomnia (FFI) became evident over the next 6 months when he developed progressive insomnia, myoclonus, sympathetic hyperactivity, dementia. The amyloid or prion protein (PrP) genotype showed features typically seen in FFI, with 178Asn mutation 129Met polymorphism. There was also deletion one octapeptide repeat, suggesting that association...
We report a familial form of Creutzfeldt-Jakob disease, associated with unique insert mutation the PRNP gene in an American family Ukrainian origin. Ten members exhibited early age at onset and longduration illnesses characterized primarily by personality changes, cognitive impairment, spasticity. The proband, presenting 42 years, fairly stable, nonprogressive course over 7 followed precipitous decline death eighth year. Other affected marked clinical heterogeneity. Each tested member had...
<h3>Abstract</h3> Upconversion nanoparticles (UCNPs) are utilized extensively for biomedical imaging, sensing, and therapeutic applications, yet the molecular weight of UCNPs has not previously been reported. We present a theory based upon crystal structure to estimate UCNPs: enabling insight into UCNP first time. theoretical various reported in literature, predicting that spherical NaYF4 ~ 10 nm diameter will be ~1 MDa (i.e. 10<sup>6</sup> g/mol), whereas 45 ~100 10<sup>8</sup> g/mol). also...
Four patients who received dural grafts of cadaveric origin in the course posterior fossa procedures subsequently developed Creutzfeldt-Jakob disease (CJD). The interval from placement to clinical onset CJD ranged 16 months nine years. Initial presentation consisted cerebellar symptoms, with dementia and myoclonus developing later stages disease. EEGs showed diffuse slowing that evolved a periodic activity pattern. CT MRI were unremarkable early but pronounced cerebral atrophy widened sulci...