Alpha1-Antitrypsin Deficiency — A Model for Conformational Diseases
RW Carrell, DA Lomas - New England Journal of Medicine, 2002 - Mass Medical Soc
RW Carrell, DA Lomas
New England Journal of Medicine, 2002•Mass Medical SocAlpha1-antitrypsin is a member of a family of protease inhibitors known as the serpins.
Mutations in these molecules can lead to disease, not only because the biologic activity of
the protease in tissue is increased, but also because the mutations result in misfolded (ie,
conformationally abnormal) protease molecules that accumulate in tissue. This review article
summarizes the action of these protease inhibitors and how mutations lead to their
accumulation in particular neurodegenerative disorders such as prion encephalopathies …
Mutations in these molecules can lead to disease, not only because the biologic activity of
the protease in tissue is increased, but also because the mutations result in misfolded (ie,
conformationally abnormal) protease molecules that accumulate in tissue. This review article
summarizes the action of these protease inhibitors and how mutations lead to their
accumulation in particular neurodegenerative disorders such as prion encephalopathies …
Alpha1-antitrypsin is a member of a family of protease inhibitors known as the serpins. Mutations in these molecules can lead to disease, not only because the biologic activity of the protease in tissue is increased, but also because the mutations result in misfolded (i.e., conformationally abnormal) protease molecules that accumulate in tissue. This review article summarizes the action of these protease inhibitors and how mutations lead to their accumulation in particular neurodegenerative disorders such as prion encephalopathies and Alzheimer's disease.
The New England Journal Of Medicine