Ontology highlight
ABSTRACT:
SUBMITTER: Scharenberg SG
PROVIDER: S-EPMC7335164 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Scharenberg Samantha G SG Poletto Edina E Lucot Katherine L KL Colella Pasqualina P Sheikali Adam A Montine Thomas J TJ Porteus Matthew H MH Gomez-Ospina Natalia N
Nature communications 20200703 1
Gaucher disease is a lysosomal storage disorder caused by insufficient glucocerebrosidase activity. Its hallmark manifestations are attributed to infiltration and inflammation by macrophages. Current therapies for Gaucher disease include life-long intravenous administration of recombinant glucocerebrosidase and orally-available glucosylceramide synthase inhibitors. An alternative approach is to engineer the patient's own hematopoietic system to restore glucocerebrosidase expression, thereby repl ...[more]