Multiple Sclerosis (MS) is a demyelinating disease of the human central nervous system
having an unconfirmed pathoetiology. Although animal models are used to mimic the …

Summary α 1-Antitrypsin deficiency is characterised by the misfolding and intracellular
polymerisation of mutant α 1-antitrypsin within the endoplasmic reticulum of hepatocytes …

During biosynthesis, proteins can begin folding co-translationally to acquire their biologically-
active structures. Folding, however, is an imperfect process and in many cases misfolding …

Severe α1‐antitrypsin deficiency results from the Z allele (Glu342Lys) that causes the
accumulation of homopolymers of mutant α1‐antitrypsin within the endoplasmic reticulum of …

The serpinopathies are among a diverse set of conformational diseases that involve the
aberrant self-association of proteins into ordered aggregates. α1-Antitrypsin deficiency is the …

Background & Aims α 1-Antitrypsin deficiency (A1ATD) is an autosomal recessive disorder
caused by mutations in the SERPINA1 gene. Individuals with the Z variant (Gly342Lys) …

The SERPINA1 gene encodes the serine protease inhibitor alpha-1 antitrypsin (AAT) and is
located on chromosome 14q31-32.3 in a cluster of homologous genes likely formed by exon …

Genetic mutations predispose the serine protease inhibitor α1-antitrypsin to misfolding and
polymerisation within hepatocytes, causing liver disease and chronic obstructive pulmonary …

The growth of publicly available data informing upon genetic variations, mechanisms of
disease, and disease subphenotypes offers great potential for personalized medicine …

Conjugation to polyethylene glycol (PEG) is a widely used approach to improve the
therapeutic value of proteins essentially by prolonging their body residence time. PEGylation …