Yulia Grishchuk

The paper identifies plasma proteomic signatures associated with MLIV, showing decreased neuronal proteins and increased muscle proteins, with specific markers correlating with disease severity.

This study shows that AAV-mediated WDR45 gene transfer rescues neurologic deficits and autophagy defects in a mouse model of BPAN.

The paper uses cell type-specific proteomics in a MLIV mouse model to identify molecular mechanisms and dysregulated pathways in different brain cell types.

This study demonstrates that AAV-mediated MCOLN1 gene transfer improves motor function and reduces brain pathology in a mouse model of mucolipidosis IV.