Research output per year
Research output per year
Personal profile
Research interests
My research interests focus on three areas:
1) Identification of new biomarkers using liquid chromatography-tandem mass spectrometry (LC-MS/MS) metabolomics
2) Development and implementation of LC-MS/MS clinical laboratory tests
3) Development and validation of LC-MS/MS methods for quantification of biomarkers and drugs to support clinical trials
I have discovered long chain ceramides as biomarkers for diabetic cardiovascular disease and bile acid markers for NPC disease. I have developed and implemented an oxysterol diagnostic blood test for NPC disease, and 24-hydroxycholesterol and 2-hydroxypropyl-ß-cyclodextrin assays for a Phase 1 clinical trial. One of current efforts is to develop diagnostic test and newborn screening method for NPC disease using the bile acid markers.
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Collaborations and top research areas from the last five years
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A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease
Furderer, M. L., Berhe, B., Chen, T. C., Wincovitch, S., Jiang, X., Tayebi, N., Sidransky, E. & Han, T. U., Feb 2024, In: International journal of molecular sciences. 25, 3, 1827.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
The Association Between C24:0/C16:0 Ceramide Ratio and Cardiorespiratory Fitness is Robust to Effect Modifications by Age and Sex
Zatloukal, J., Zylla, S., Markus, M. R. P., Ewert, R., Gläser, S., Völzke, H., Albrecht, D., Friedrich, N., Nauck, M., Peterson, L. R., Jiang, X., Schaffer, J. E., Felix, S. B., Dörr, M., Bahls, M. & Gross, S., Apr 2024, In: Advanced Biology. 8, 4, 2300633.Research output: Contribution to journal › Article › peer-review
Open Access -
A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis
Kell, P., Sidhu, R., Qian, M., Mishra, S., Nicoli, E. R., D'Souza, P., Tifft, C. J., Gross, A. L., Gray-Edwards, H. L., Martin, D. R., Sena-Esteves, M., Dietzen, D. J., Singh, M., Luo, J., Schaffer, J. E., Ory, D. & Jiang, X., Jun 2023, In: EBioMedicine. 92, 104627.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients
Nicoli, E. R., Huebecker, M., Han, S. T., Garcia, K., Munasinghe, J., Lizak, M., Latour, Y., Yoon, R., Glase, B., Tyrlik, M., Peiravi, M., Springer, D., Baker, E. H., Priestman, D., Sidhu, R., Kell, P., Jiang, X., Kolstad, J., Kuhn, A. L. & Shazeeb, M. S. & 4 others, , Feb 2023, In: Molecular genetics and metabolism. 138, 2, 107508.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Sphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency
Gaudioso, Á., Jiang, X., Casas, J., Schuchman, E. H. & Ledesma, M. D., Apr 2023, In: Cell Death and Disease. 14, 4, 248.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations