Ontology highlight
ABSTRACT:
SUBMITTER: Samaranch L
PROVIDER: S-EPMC7285630 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Samaranch Lluis L Pérez-Cañamás Azucena A Soto-Huelin Beatriz B Sudhakar Vivek V Jurado-Arjona Jerónimo J Hadaczek Piotr P Ávila Jesús J Bringas John R JR Casas Josefina J Chen Haifeng H He Xingxuan X Schuchman Edward H EH Cheng Seng H SH Forsayeth John J Bankiewicz Krystof S KS Ledesma María Dolores MD
Science translational medicine 20190801 506
Niemann-Pick disease type A (NPD-A) is a lysosomal storage disorder characterized by neurodegeneration and early death. It is caused by loss-of-function mutations in the gene encoding for acid sphingomyelinase (ASM), which hydrolyzes sphingomyelin into ceramide. Here, we evaluated the safety of cerebellomedullary (CM) cistern injection of adeno-associated viral vector serotype 9 encoding human ASM (AAV9-hASM) in nonhuman primates (NHP). We also evaluated its therapeutic benefit in a mouse model ...[more]