MCOLN1 gene-replacement therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.
Samantha DeRosa, Monica Salani, Sierra Smith, Madison Sangster, Victoria Miller-Browne, Sarah Wassmer, Ru Xiao, Luk H. Vandenberghe, Susan A. Slaugenhaupt, Albert L. Misko, Yulia Grishchuk
This study demonstrates that AAV-mediated MCOLN1 gene transfer improves motor function and reduces brain pathology in a mouse model of mucolipidosis IV.
Human Molecular Genetics · Apr 2, 2021Peer-reviewedGenetics