Protein Misfolding Diseases
 Understanding the role of protein misfolding in the pathogenesis of human disease is an emerging and exciting field of research. There are two categories of protein misfolding diseases based on the fate of the misfolded proteins—loss of function diseases and toxic gain of function diseases.
| Cystic Fibrosis |
Cystic fibrosis conductance transmembrane regulator (CFTR) |
| Emphysema |
a1-antitrypsin |
| Long QT Syndrome |
hERG potassium channel |
| Fabry Disease |
a-galactosidase A |
| Gaucher Disease |
Glucocerebrosidase |
| Parkinson’s disease |
a-synuclein |
| Alzheimer’s disease |
Amyloid-beta, Tau |
| Huntington’s disease |
Huntingtin |
| Type 2 diabetes mellitus |
Islet amyloid polypeptide |
| Liver disease |
a1-antitrypsin |
| Transthyretin amyloidosis |
Transthyretin (TTR) |
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