In February, Xuntian Jiang, PhD and collaborators had their research titled “GLB1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients,” published in the journal of “Molecular Genetics and Metabolism.” “GM1 gangliosidosis is a rare lysosomal storage disorder affecting multiple organ systems, primarily the central nervous system, and is caused by functional […]
In May, Xuntian Jiang, PhD and colleagues had their research titled “CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β–Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease,” published in “Frontiers in Molecular Neuroscience.” Krabbe Disease is a genetic deficiency disorder of the lysosomal enzyme β-galactosyl-ceramidase (GALC). The correlation between reduced activity […]
On February 10, Xuntian Jiang, PhD and collaborators had their research titled, “AAV gene therapy for Tay-Sachs disease,” published in “Nature Medicine.” Tay-Sachs disease (TSD) is defined as an inherited neurological disorder caused by deficiency of hexosaminidase A. The study assesses two patients with infantile TSD in an adeno-associated virus (AAV) gene therapy expanded-access […]