Sardiello Lab

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

• Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models
  January 15, 2025
  Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse modelsZiółkowska, E. A., Jansen, M. J., Williams, L. L., Wang, S. H., Eultgen, E. M., Takahashi, K., Le, S. Q., Nelvagal, H. R., Sharma, J., Sardiello, M., DeBosch, B. J., Dickson, P. I., Anderson, J. B., Sax, S. E., Wright, C. M., Bradley, R. P., Whiteman, I. T., Makita, T., Grider, J. R. & Sands, M. S. & 2 others, Heuckeroth, R. O. & Cooper, J. D., Jan 15 2025, In: Science translational medicine. 17, 781, eadj1445.Research output: Contribution to journal › Article […]
• Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
  January 1, 2025
  Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Undiagnosed Diseases Network, Jan 2025, In: Molecular genetics and metabolism. 144, 1, 109004.Research output: Contribution to journal › Article › peer-review
• Identification of a leucine-mediated threshold effect governing macrophage mTOR signalling and cardiovascular risk
  February 1, 2024
  Identification of a leucine-mediated threshold effect governing macrophage mTOR signalling and cardiovascular riskZhang, X., Kapoor, D., Jeong, S. J., Fappi, A., Stitham, J., Shabrish, V., Sergin, I., Yousif, E., Rodriguez-Velez, A., Yeh, Y. S., Park, A., Yurdagul, A., Rom, O., Epelman, S., Schilling, J. D., Sardiello, M., Diwan, A., Cho, J., Stitziel, N. O. & Javaheri, A. & 3 others, Lodhi, I. J., Mittendorfer, B. & Razani, B., Feb 2024, In: Nature Metabolism. 6, 2, p. 359-377 19 p.Research output: Contribution to journal › Article › peer-review
• TFEB–vacuolar ATPase signaling regulates lysosomal function and microglial activation in tauopathy
  January 1, 2024
  TFEB–vacuolar ATPase signaling regulates lysosomal function and microglial activation in tauopathyWang, B., Martini-Stoica, H., Qi, C., Lu, T. C., Wang, S., Xiong, W., Qi, Y., Xu, Y., Sardiello, M., Li, H. & Zheng, H., Jan 2024, In: Nature neuroscience. 27, 1, p. 48-62 15 p.Research output: Contribution to journal › Article › peer-review
• Calpain activity is negatively regulated by a KCTD7–Cullin-3 complex via non-degradative ubiquitination
  December 1, 2023
  Calpain activity is negatively regulated by a KCTD7–Cullin-3 complex via non-degradative ubiquitinationSharma, J., Mulherkar, S., Chen, U. I., Xiong, Y., Bajaj, L., Cho, B. K., Goo, Y. A., Leung, H. C. E., Tolias, K. F. & Sardiello, M., Dec 2023, In: Cell Discovery. 9, 1, 32.Research output: Contribution to journal › Article › peer-review