Serpinopathies

Mutations in neuroserpin anda1-antitrypsin cause these proteins to form ordered polymers that are retained within the endoplasmic reticulum of neurones and hepatocytes, respectively. The resulting inclusions underlie the dementia familial encephalopathy with neuroserpin inclusion bodies (FENIB) and Z a1-antitrypsin-associated cirrhosis.

13p inspiron33 26-03-2013 50 5   Download

Members of the serine protease inhibitor (serpin) superfamily are found in all branches of life and play an important role in the regulation of enzymes involved in proteolytic cascades. Mutants of the serpins result in a delay in folding, with unstable intermediates being cleared by endoplasmic reticu-lum-associated degradation.

9p cosis54 09-12-2012 30 2   Download