Methods and kits for diagnosing and/or assessing severity and treating gaucher disease

摘要

Methods and kits for treating Gaucher disease are provided. The methods are based on using agents capable of inhibiting proteasomal degradation of glucocerebrosidase and/or elevating a level of mis-folded yet active glucocerebrosidase in cell lysosomes. Also provided are methods and kits for diagnosing and/or assessing a severity and determining prognosis of Gaucher disease or other diseases associated with abnormally folded proteins which are retained in the ER.