Madison Sangster

Plasma Proteomic Signature of Mucolipidosis Type IV

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

AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegeneration

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

A blood-brain-barrier penetrant AAV gene therapy rescues neurological deficits in mucolipidosis IV mice.

Brain cell type specific proteomics approach to discover pathological mechanisms in the childhood CNS disorder mucolipidosis type IV

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

MCOLN1 gene-replacement therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.

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