Sardiello Lab
Marco Sardiello, PhD
Our lab is primarily focused on medical genetics. Building on the foundation established by the Human Genome Project, we continuously work to characterize un-annotated genes and proteins associated with hereditary disorders.
Lysosomes are a central part of our research. By characterizing lysosomal proteins, we aim to find ways to combat lysosomal storage neurodegenerative diseases. In 2009, Sardiello characterized TFEB (transcription factor EB) in a groundbreaking study that refined the role of lysosomes. Since then, the Sardiello lab has been dedicated to understanding lysosomal proteins to treat or cure neuronal ceroid lipofuscinoses, a specific type of lysosomal storage disease.
Translational medicine is one of our top priorities. We believe strongly in bench-to-bedside approaches and work diligently to realize this ideal. Our research not only focuses on characterizing and discovering new scientific concepts but also on delivering the benefits of our discoveries to the patients who need them. The Sardiello lab is committed to making a difference.
Principal investigator
Our team
Affiliated faculty
Personnel
Recent publications
- Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transferBajaj, L., Sharma, J., di Ronza, A., Zhang, P., Eblimit, A., Pal, R., Roman, D., Collette, J. R., Booth, C., Chang, K. T., Sifers, R. N., Jung, S. Y., Weimer, J. M., Chen, R., Schekman, R. W. & Sardiello, M., Dec 15 2025, In: The Journal of clinical investigation. 135, 24Research output: Contribution to journal › Comment/debate
- Gene therapy ameliorates neuromuscular pathology in CLN3 diseaseZiółkowska, E. A., Jablonka-Shariff, A., Williams, L. L., Jansen, M. J., Wang, S. H., Eultgen, E. M., Wood, M. D., Hunter, D. A., Sharma, J., Sardiello, M., Reese, R., Pestronk, A., Sands, M., Snyder-Warwick, A. & Cooper, J. D., Dec 2025, In: Acta Neuropathologica Communications. 13, 1, 160.Research output: Contribution to journal › Article › peer-review
- Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targetsZiółkowska, E. A., Takahashi, K., Dickson, P. I., Sardiello, M., Sands, M. S. & Cooper, J. D., Nov 2025, In: Nature Reviews Neurology. 21, 11, p. 606-622 17 p.Research output: Contribution to journal › Review article › peer-review
- Human Single-Nucleus RNA Sequencing Identifies CD47 as a Therapeutic Target for Doxorubicin-Induced CardiomyopathyGuo, Z., Ataran, A., Ma, P., Yu, W., Hajirezaei, H., Valenzuela Ripoll, C., Pedersen, L. N., Rashidi, O., Chan, M. M., Shen, M., Kelley, S., Sargazi, A., Ozcan, M., Lotfinaghsh, A., Cho, Y., Diab, A., Grogan, F., Klaas, A., Pompian, A. & Imam, A. & 18 others, Lodhi, R., Zelleke, A. B., Kovacs, A., Margulies, K. B., Szymanski, J., Sardiello, M., Razani, B., Asnani, A., Kopecky, B. J., Signore, P. E., Yi, B. A., Basson, C. T., Ravichandran, K. S., Prabhu, S. D., Bergom, C., Schilling, J. D., […]
- Sodium-Glucose Cotransporter Inhibition Preserves Apolipoprotein M During Acute Inflammation in Mice and HumansValenzuela Ripoll, C., Lotfinaghsh, A., Guo, Z., Kumari, T., Miyata, K. N., Sargazi, A., Ozcan, M., Diab, A., Ataran, A., Hajirezaei, H., Rashidi, O., Yu, W., Cho, Y., Kovacs, A., Weinheimer, C., Nigro, J., Cases, O., Kozyraki, R., Oscarsson, J. & Esterline, R. & 12 others, Levi, M., Berger, J. H., Schilling, J. D., Apte, R. S., Sardiello, M., Peikert, A., Kosiborod, M., Adamo, L., Lowenstein, C., Christoffersen, C., Cho, J. & Javaheri, A., Jun 2025, In: JACC: Advances. 4, 6P2, 101839.Research output: Contribution to journal › Article […]