公开(公告)号：US20230132790A1

公开(公告)日：2023-05-04

申请号：US17915500

申请日：2021-03-29

Applicant: Yeda Research and Development Co. Ltd.

Inventor： Anthony H. FUTERMAN ,  Israel SILMAN ,  Joel L. SUSSMAN ,  Sarel FLEISHMAN ,  Adi GOLDENZWEIG ,  Sarka POKORNA ,  Yaacov ASHANI ,  Olga KHERSONSKY

IPC: C12N9/24

Abstract: A genetically modified human beta-glucocerebrosidase (GCase) is disclosed. The genetically modified GCase comprising an amino acid sequence at least 85% identical to SEQ ID NO: 2; and comprising mutations at coordinates L34P, K224N/G, T369E and N370D, where the coordinates correspond to said SEQ ID NO: 2; and capable of catalyzing hydrolysis of a glycolipid glucosylceramide (GlcCer). Pharmaceutical compositions comprising the genetically modified GCase and therapeutic methods of using same are also disclosed.