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711 Possible Causes for detection, misfolded, of, protein

Did you mean: detection, misfolded, of, proteus

  • Prion Disease

    […] diseases, it is important to have tests that are practical enough for routine applications in medicine, agriculture, wildlife biology, and research, yet sensitive enough to detect[ncbi.nlm.nih.gov] The 'protein-only hypothesis' provides a theoretical model to explain how a protein self-replicates without nucleic acid, which predicts that a prion, the proteinaceous infectious[ncbi.nlm.nih.gov] In contrast to other in vitro misfolded protein amplification assays-such as protein misfolding cyclic amplification (PMCA)-which are based on sonication, the RT-QuIC technique[ncbi.nlm.nih.gov] Abstract Protease-resistant prion protein (PrP(Sc) ) is diagnostic of prion disease, yet its detection is frequently difficult.[ncbi.nlm.nih.gov]

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  • TTR Amyloidosis with Polyneuropathy

    CONCLUSIONS: Plantar SSR and LEPs have similar diagnostic performance in detecting small-fiber dysfunction in early TTR-FAP; we propose that both tests should be used to investigate[ncbi.nlm.nih.gov] Other symptoms depend on where protein accumulation occur in the body.[fapnewstoday.com] This term describes the accumulation of misfolded protein in the interstitial space.[centogene.com] Amyloid deposits were histopathologically detectable in 10 of 14 SN specimens.[ncbi.nlm.nih.gov]

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  • Creutzfeldt Jakob Disease

    Our results showed that PrP Sc could be detected with 100% sensitivity and specificity in blood samples from vCJD patients.[ncbi.nlm.nih.gov] A recent report has described the detection of abnormal prion protein in the urine of patients with variant CJD (vCJD) using protein misfolding by cyclic amplification, which[ncbi.nlm.nih.gov] The responsible protein arrives at a pathogenic state by misfolding from a normal form that has ubiquitous tissue distribution.[dx.doi.org] Beaudry PCohen PBrandel JP et al 14-3-3 protein, neuron-specific enolase, and S-100 protein in cerebrosinal fluid of patients with Creutzfeldt-Jakob disease.[doi.org]

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  • Fatal Familial Insomnia

    It is based on the detection of organic sleep disturbances, either verified clinically or by a polysomnography, and a combination of vegetative and focal neurological signs[epub.ub.uni-muenchen.de] Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism L Monari , S G Chen , P Brown , P Parchi , R B Petersen[pnas.org] Similarly, misfolded proteins cannot do their job and only serve to cause problems in the cell.[study.com] A p value Results Study collective From 1 June 1993 to 31 May 2005, 105 patients with a confirmed PRNP mutation were detected.[jnnp.bmj.com]

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  • Amyloidosis

    In normal epididymides, expression of amyloid P and transthyretin was detected in the apical surface of epithelial cells.[ncbi.nlm.nih.gov] Is the candidate protein an amyloid fibril protein? An amyloid fibril protein occurs in tissue deposits as rigid, non-branching fibrils approximately 10 nm in diameter.[doi.org] The Platform on “protein misfolding and amyloidosis in neurodegenerative diseases” focuses mainly on the study of systemic amyloidosis, a group of diseases caused by the accumulation[inbb.it] RESULTS: In four patients (1.2%), a TTR mutation was detected (E7G, V30M, T119M, V122I). The E7G mutation is probably a non-pathogenic mutation.[ncbi.nlm.nih.gov]

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  • TTR Amyloidosis with Cardiomyopathy

    This test does not detect large deletions or variants in non-coding regions that could affect gene expression.[personalizedmedicine.partners.org] More than two dozen different amyloid fibril proteins have been identified in humans, and the nature of the amyloid precursor protein is pivotal for the classification of[symptoma.com] These monomers are unstable, and can misfold and aggregate as amyloid fibrils that cause disease.[eidostx.com] The detection of this disease is important because this disease is fatal and a new treatment to prevent the accumulation of TTR is now available (Tafamidis).[clinicaltrials.gov]

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  • Hereditary ATTR Amyloidosis

    If amyloid fibril analysis detects wild type TTR protein and genetic testing does not detect any TTR gene mutations, then the diagnosis is SSA.[ttrstudy.com] All proteins are the product of genes and there are two copies of the gene for each protein.[ttrstudy.com] BACKGROUND: Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare, clinically heterogeneous disease due to heritable mutations that lead to misfolding of a precursor[ncbi.nlm.nih.gov] Hereditary ATTR Amyloidosis with Polyneuropathy (hATTR-PN) Hereditary ATTR amyloidosis is a progressive, life-threatening disease caused by misfolded transthyretin (TTR) proteins[alnylam.microartswpdev.com]

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  • Pelizaeus-Merzbacher Disease

    We developed an assay for the detection of the PLP1 gene dosage by real-time quantitative PCR using the ABI Prism 7700 Sequence Detection System and the TaqMan chemistry.[ncbi.nlm.nih.gov] Abstract Pelizaeus-Merzbacher disease (PMD) is a rare X-linked leukodystrophy caused by proteolipid protein 1 (PLP1) gene mutations.[ncbi.nlm.nih.gov] Hence, a better understanding of protein misfolding features might help in developing novel therapies.[ncbi.nlm.nih.gov] Abstract A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis.[ncbi.nlm.nih.gov]

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  • Dementia

    There is a growing interest in tests that detect dementia at an early stage, before symptoms have become problematic or noticeable.[cochrane.org] The pathogenesis of AD is complex, involving specific disease-linked proteins (amyloid-beta [Aβ] and tau), inflammation, and neurotransmitter dysregulation.[ncbi.nlm.nih.gov] These findings support an epidemiological association between TBI and dementia and further characterize the variety of misfolded proteins that may accumulate after TBI.[ncbi.nlm.nih.gov] The pathogenesis of AD is complex, involving specific disease-linked proteins (amyloid-beta [Aß] and tau), inflammation, and neurotransmitter dysregulation.[doi.org]

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  • Systemic Amyloidosis

    MRI measurement of ECV is a sensitive marker of amyloid deposits with potential application for early detection and monitoring therapies promoting their clearance.[ncbi.nlm.nih.gov] Suppression of the fibril precursor protein is desirable in the amyloidoses that have a rapid natural history.[ncbi.nlm.nih.gov] Abstract Amyloidosis is a heterogeneous group of disorders that are characterized by extracellular deposition of misfolded and aggregated autologous proteins leading to organ[ncbi.nlm.nih.gov] KEYWORDS: Amyloid; Atomic Force Microscopy (AFM); Fibrillogenesis in Vitro; Genetic Variant Asp76Asn; Mechanism of Amyloidogenesis; Protein Aggregation; Protein Misfolding[ncbi.nlm.nih.gov]

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