protein misfolding disease

protein misfolding disease

Any abnormality that prevents a polypeptide chain from achieving its usual structure in the body, rendering it functionally abnormal or inactive. Examples include sickle cell disease, in which a single genetic substitution makes hemoglobin molecules distorted under low oxygen tension, or Alzheimer's disease, in which structurally abnormal amyloid plaques build up in the brain, causing dementia.
References in periodicals archive ?
Prion diseases, also known as transmissible spongiform encephalopathies (TSEs), are a transmissible protein misfolding disease, which makes them a good model to study common aspects of these diseases.
(2011) Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.
Buhimschi and her team had found in an earlier study that preeclampsia is a pregnancy-specific protein misfolding disease.
"These results support the hypothesis that preeclampsia is a pregnancy-specific protein misfolding disease. Our urine dye test is a rapid and non-invasive test that can be used to definitively diagnose preeclampsia," said lead author on the abstract, Irina Buhimschi, M.D., associate professor in the Department of Obstetrics, Gynecology and Reproductive Sciences.
ProMIS' SAB members are highly published and cited contributors to current scientific understanding of Alzheimer's and Parkinson's disease, ALS, other neurodegenerative diseases and protein misfolding diseases in general.
The broad applicability of the GAIM technology enables the company to target multiple protein misfolding diseases, including neurodegenerative diseases and orphan systemic amyloidoses.
Biochemists and biologists from around the world offer 35 articles in various areas of biochemistry, such as protein misfolding diseases, amyloid proteins at the molecular level, the mechanisms and functions of spatial protein quality control, regulated protein degradation and the ubiquitin system and autophagy, ubiquitin ligases, mechanisms of deubiquitinase specificity and regulation, proteasomal and autophagic degradation systems, mechanisms of autophagy initiation, the systems biology of metabolism, metabolite measurement, isocitrate dehydrogenase and cancer therapeutics, tools for patchy switching in biology, the biochemistry of reductive dehalogenation, electric fields and enzyme catalysis, the eukaryotic DNA replication fork, and the telomerase mechanism of telomere synthesis.
It is engaged in the drug discovery and development for protein misfolding diseases, which include Alzheimer's and Parkinson's diseases, type-two diabetes, and many rare forms of amyloidosis.
Prof Sanjeevi Sivasankar, author of the report in Science Advances, said: "This study has major implications to our understanding the role of metals in protein misfolding diseases, including Alzheimer's and Parkinson's."
Another 29 reviews consider such topics as mechanisms of acid resistance in Escherichia coli, microbial contributions to phosphorus cycling in eutrophic lakes and wastewater, wall teichoic acids of Gram-positive bacteria, biological consequences and advantages of asymmetric bacterial growth, prions and the potential transmissibility of protein misfolding diseases, and the wonderful world of archaeal viruses.
There is considerable interest in defining the molecular mechanisms of [PrP.sup.Sc]-induced [PrP.sup.C] misfolding, in particular if similar mechanisms are shared by other protein misfolding diseases. Two distinct models of conformational infectivity have emerged, template-directed refolding and nucleated polymerization (Figure 1).
"By combining FoldRx's proprietary expertise in identifying and developing treatments for protein misfolding diseases with Pfizer's commercial, medical and regulatory expertise and global strengths in patient services and reimbursement, we are taking a significant step toward potentially bringing, for the first time, a nonsurgical treatment option for underserved patients affected by the deadly disease ATTR-PN," states Geno Germano, president and general manager of Pfizer's specialty care business unit.