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Personal profile

Research interests

My laboratory studies the pathogenic mechanisms leading to the clinical signs associated with lysosomal storage diseases. We also develop effective therapeutic approaches for this class of inherited pediatric disease. Specifically, we have developed recombinant enzyme replacement, stem cell-mediated and gene transfer therapies in our mouse models of disease.

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Research Output

Cell-autonomous expression of the acid hydrolase galactocerebrosidase

Mikulka, C. R., Dearborn, J. T., Benitez, B. A., Strickland, A., Liu, L., Milbrandt, J. & Sands, M. S., Apr 21 2020, In : Proceedings of the National Academy of Sciences of the United States of America. 117, 16, p. 9032-9041 10 p.

Research output: Contribution to journalArticle

  • Cell-Type-Specific Profiling of Alternative Translation Identifies Regulated Protein Isoform Variation in the Mouse Brain

    Sapkota, D., Lake, A. M., Yang, W., Yang, C., Wesseling, H., Guise, A., Uncu, C., Dalal, J. S., Kraft, A. W., Lee, J. M., Sands, M. S., Steen, J. A. & Dougherty, J. D., Jan 15 2019, In : Cell Reports. 26, 3, p. 594-607.e7

    Research output: Contribution to journalArticle

    Open Access
  • 8 Scopus citations

    Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target

    Li, Y., Xu, Y., Benitez, B. A., Nagree, M. S., Dearborn, J. T., Jiang, X., Guzman, M. A., Woloszynek, J. C., Giaramita, A., Yip, B. K., Elsbernd, J., Babcock, M. C., Lo, M., Fowler, S. C., Wozniak, D. F., Vogler, C. A., Medin, J. A., Crawford, B. E. & Sands, M. S., Oct 1 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 40, p. 20097-20103 7 p.

    Research output: Contribution to journalArticle

    Open Access
  • 7 Scopus citations

    A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum

    Sidhu, R., Mikulka, C. R., Fujiwara, H., Sands, M. S., Schaffer, J. E., Ory, D. S. & Jiang, X., Jul 2018, In : Biomedical Chromatography. 32, 7, e4235.

    Research output: Contribution to journalArticle

  • 6 Scopus citations

    A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I

    Le, S. Q., Kan, S. H., Clarke, D., Sanghez, V., Egeland, M., Vondrak, K. N., Doherty, T. M., Vera, M. U., Iacovino, M., Cooper, J. D., Sands, M. S. & Dickson, P. I., Mar 16 2018, In : Molecular Therapy - Methods and Clinical Development. 8, p. 42-51 10 p.

    Research output: Contribution to journalArticle

    Open Access
  • 7 Scopus citations