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MLIV is a genetic childhood neurodevelopmental disorder involving the lysosome. Lysosomal dysfunction contributes to astrocyte activation and neuronal injury. We deploy computational methods to identify relevant disease targets. 

Systems Analysis of MLIV Pathology. 


Mucolipidosis Type IV is an autosomal regressive pediatric disorder. The disease involves the loss of the MCOLN1 gene, which encodes a lysosomal channel protein. Individuals afflicted with this condition exhibit motor, cognitive, and visual deficits. The loss of the MCOLN1 gene manifests in hypomyelinating leukodystrophy with iron accumulation in the basal ganglia and progressive cerebellar atrophy. Our lab seeks to identify immunological signatures characteristic of the disease that possess prognostic value. We hope to use these signatures to evaluate potential targets for treatment. We perform this analysis using various “-omics” approaches and computational modeling tools. This work is done in collaboration with Dr. Yulia Grishchuk.  

More information can be found in the articles on the right.


Figure 1. Cytokine expression analyses in MLIV patients relative to familial controls. Misko et al. 2022. Cells.


  1. Misko, A., Weinstock, L., Sankar, S., Furness, A., Grishchuk, Y., Wood, L., 2022. Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV, Cells, 11(3):546.

  2. Misko, A., Wood, L., Kiselyov, K., Slaugenhaupt, S., Grishchuk, Y., 2021. Progress in elucidating pathophysiology of mucolipidosis IV, Neuroscience Letters, 755: 135944.

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