Ontology highlight
ABSTRACT:
SUBMITTER: Favret JM
PROVIDER: S-EPMC7174556 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Favret Jacob M JM Weinstock Nadav I NI Feltri M Laura ML Shin Daesung D
Frontiers in molecular biosciences 20200415
There are over 50 lysosomal hydrolase deficiencies, many of which cause neurodegeneration, cognitive decline and death. In recent years, a number of broad innovative therapies have been proposed and investigated for lysosomal storage diseases (LSDs), such as enzyme replacement, substrate reduction, pharmacologic chaperones, stem cell transplantation, and various forms of gene therapy. Murine models that accurately reflect the phenotypes observed in human LSDs are critical for the development, as ...[more]