Work

Brain-targeted ex vivo lentiviral gene therapy: Implications for MPS and beyond

Year: 2023

Type: article

Abstract: Mucopolysaccharidosis type II (MPSII) is a rare, x-linked, pediatric lysosomal storage disorder that is caused by mutations in the IDS gene. Pathogenic mutations result in deficiency in iduronate-2-sulphatase (IDS) enzyme activity and inability to break down glycosaminoglycans (GAGs), predominantly heparan sulfate (HS) and dermatan sulfate (DS). As GAGs accumulate throughout the body, multisystemic disease manifests as skeletal abnormalities, cardiac disease, hepatosplenomegaly, and in the majority of patients neurodegeneration.

Source: Molecular Therapy — Methods & Clinical Development

DOI: 10.1016/j.omtm.2023.101137

Author: Allison M. Bradbury

Institutions: Nationwide Children's Hospital, Abigail Wexner Research Institute, The Ohio State University

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,900