Therapeutic Strategies Against Gain and Loss of Function Misfolding Diseases
نویسندگان
چکیده
منابع مشابه
The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases.
The etiologies of neurodegenerative diseases may be diverse; however, a common pathological denominator is the formation of aberrant protein conformers and the occurrence of pathognomonic proteinaceous deposits. Different approaches coming from neuropathology, genetics, animal modeling and biophysics have established a crucial role of protein misfolding in the pathogenic process. However, there...
متن کاملProtein-misfolding diseases and chaperone-based therapeutic approaches.
A large number of neurodegenerative diseases in humans result from protein misfolding and aggregation. Protein misfolding is believed to be the primary cause of Alzheimer's disease, Parkinson's disease, Huntington's disease, Creutzfeldt-Jakob disease, cystic fibrosis, Gaucher's disease and many other degenerative and neurodegenerative disorders. Cellular molecular chaperones, which are ubiquito...
متن کاملInhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases.
Lysosomal storage disorders are often caused by mutations that destabilize native folding and impair trafficking of secretory proteins. We demonstrate that endoplasmic reticulum (ER)-associated degradation (ERAD) prevents native folding of mutated lysosomal enzymes in patient-derived fibroblasts from two clinically distinct lysosomal storage disorders, namely Gaucher and Tay-Sachs disease. Prol...
متن کاملGenetic Protein Misfolding Disorders : Development of new pharmaco - therapeutic strategies
In 2002, we had shown that the small molecule 6[R]-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) rescues the biochemical phenotype in a signifi cant share of patients suffering from phenylketonuria (PKU), the most frequent genetic disorder of amino acid metabolism. The project aimed to elucidate the molecular basis of PKU and the mode of action of the small molecule exerting its effect in the pre...
متن کامل-Synuclein Misfolding and Neurodegenerative Diseases
-Synuclein is an abundant presynaptic brain protein, misfolding, aggregation and fibrillation of which are implicated as critical factors in several neurodegenerative diseases. The list of the well-known synucleinopathies includes such devastating disorders as Parkinson’s disease, Lewy body variant of Alzheimer’s disease, diffuse Lewy body disease, dementia with Lewy bodies, multiple system atr...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The FASEB Journal
سال: 2006
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fasebj.20.5.a850