The neurodegenerative disease spinocerebellar ataxia type 3 (SCA3) is caused by the presence of an extended polyglutamine stretch (polyQ) in the unstructured C-terminus of the human ataxin-3 (AT3) protein...
Keywords: Ataxin-3, de-ubiquitination, neurodegenerative diseases, polyglutamine proteins, protein misfolding
09/2007 | Biological Chemistry, Walter de GruyterPharmacological chaperone therapy is an emerging counterintuitive approach to treat protein deficiencies resulting from mutations causing misfolded protein conformations...
Keywords: active-site-specific chaperone, endoplasmic reticulum-associated degradation, enzyme inhibitor, lysosomal storage disorders, pharmacological chaperone, protein misfolding
01/2008 | Biological Chemistry, Walter de Gruyter