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Items for "protein misfolding"

Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes

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 Gruyter
A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

Pharmacological 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