Marco Sardiello

Profile picture
Associate Professor, Genetics and Genomic Medicine

phone: (314) 454-6093


  • BS, cum laude, University of Bari1999
  • PhD, University of Bari2003


  • Pre-doctoral Fellowship, University of Bari (Italy)2000 - 2002
  • Postdoctoral Fellowship , Telethon Institute of Genetics and Medicine2003 - 2010

Honors and Awards

  • Pre-doctoral Fellowship, University of Bari (Italy)2000 - 2002
  • Young Investigator Award, University of Bari (Italy)2001
  • Postdoctoral Fellowship at GEAR, University of Naples (Italy)2004 - 2005
  • Best Work of the Year, TIGEM Annual Retreat, Città di Castello (Italy)2008
  • IBB Medical Innovation Award (TX, USA)2011
  • The Virginia and L.E. Simmons Family Foundation 2011 Award2011
  • Honorary emeritus membership, Associazione Nazionale Ceroidolipofuscinosi2012
  • The Beyond Batten Disease Foundation Fellowship Award2012
  • NCL-Stiftung 2014 Research Award2014
  • Michael E. DeBakey, M.D., Excellence in Research Award2019

Recent Publications view all (49)

Publication Co-Authors

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Autophagy. 2021;17(1):1-382. PMCID:PMC7996087  PMID:33634751 
  2. A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. J Clin Invest. 2020;130(8):4118-4132. PMCID:PMC7410054  PMID:32597833 
  3. VAMP associated proteins are required for autophagic and lysosomal degradation by promoting a PtdIns4P-mediated endosomal pathway. Autophagy. 2019;15(7):1214-1233. PMCID:PMC6613884  PMID:30741620 
  4. Lysosome biogenesis in health and disease. J Neurochem. 2019;148(5):573-589. PMCID:PMC6368902  PMID:30092616 
  5. Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways. Proc Natl Acad Sci U S A. 2019;116(8):2977-2986. PMCID:PMC6386676  PMID:30728291 
  6. CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. Nat Cell Biol. 2018;20(12):1370-1377. PMCID:PMC6277210  PMID:30397314 
  7. Src regulates amino acid-mediated mTORC1 activation by disrupting GATOR1-Rag GTPase interaction. Nat Commun. 2018;9(1):4351. PMCID:PMC6195609  PMID:30341294 
  8. TFEB enhances astroglial uptake of extracellular tau species and reduces tau spreading. J Exp Med. 2018;215(9):2355-2377. PMCID:PMC6122971  PMID:30108137 
  9. Lysosomes and Brain Health. Annu Rev Neurosci. 2018;41:255-276. PMID:29661037 
  10. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018;103(1):154-162. PMCID:PMC6035372  PMID:29961569 
  11. Aminode: Identification of Evolutionary Constraints in the Human Proteome. Sci Rep. 2018;8(1):1357. PMCID:PMC5778061  PMID:29358731 
  12. Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency. Autophagy. 2018;14(8):1419-1434. PMCID:PMC6103706  PMID:29916295 
  13. AKT modulates the autophagy-lysosome pathway via TFEB. Cell Cycle. 2017;16(13):1237-1238. PMCID:PMC5531618  PMID:28636416 
  14. Inhibition of ERK1/2 Restores GSK3β Activity and Protein Synthesis Levels in a Model of Tuberous Sclerosis. Sci Rep. 2017;7(1):4174. PMCID:PMC5482840  PMID:28646232 
  15. Corrigendum: mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases. Nat Commun. 2017;8:15793. PMCID:PMC5474731  PMID:28607479 
  16. Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse. PLoS Genet. 2017;13(6):e1006825. PMCID:PMC5480855  PMID:28640802 
  17. mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases. Nat Commun. 2017;8:14338. PMCID:PMC5303831  PMID:28165011 
  18. Transcription factor EB: from master coordinator of lysosomal pathways to candidate therapeutic target in degenerative storage diseases. Ann N Y Acad Sci. 2016;1371(1):3-14. PMCID:PMC5032832  PMID:27299292 
  19. NADPH oxidase promotes Parkinsonian phenotypes by impairing autophagic flux in an mTORC1-independent fashion in a cellular model of Parkinson's disease. Sci Rep. 2016;6:22866. PMCID:PMC4785399  PMID:26960433 
  20. Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway. Autophagy. 2016;12(3):484-98. PMCID:PMC4835958  PMID:26761346 
  21. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016;12(1):1-222. PMCID:PMC4835977  PMID:26799652 
  22. Electrophysiological and Histological Characterization of Rod-Cone Retinal Degeneration and Microglia Activation in a Mouse Model of Mucopolysaccharidosis Type IIIB. Sci Rep. 2015;5:17143. PMCID:PMC4660851  PMID:26607664 
  23. Diminished MTORC1-Dependent JNK Activation Underlies the Neurodevelopmental Defects Associated with Lysosomal Dysfunction. Cell Rep. 2015;12(12):2009-20. PMCID:PMC4591237  PMID:26387958 
  24. Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Sci Rep. 2015;5:13191. PMCID:PMC4538604  PMID:26278786 
  25. A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis. PLoS Biol. 2015;13(3):e1002103. PMCID:PMC4374850  PMID:25811491 
  26. CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins. J Cell Biol. 2014;207(2):213-23. PMCID:PMC4210445  PMID:25349259 
  27. Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB. EMBO Mol Med. 2014;6(9):1142-60. PMCID:PMC4197862  PMID:25069841 
  28. Src-dependent impairment of autophagy by oxidative stress in a mouse model of Duchenne muscular dystrophy. Nat Commun. 2014;5:4425. PMCID:PMC4101811  PMID:25028121 
  29. 2-Hydroxypropyl-β-cyclodextrin promotes transcription factor EB-mediated activation of autophagy: implications for therapy. J Biol Chem. 2014;289(14):10211-22. PMCID:PMC3974990  PMID:24558044 
  30. Rotenone induces neurotoxicity through Rac1-dependent activation of NADPH oxidase in SHSY-5Y cells. FEBS Lett. 2014;588(3):472-81. PMCID:PMC3932663  PMID:24374334 
  31. A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells. PLoS One. 2013;8(6):e68060. PMCID:PMC3695942  PMID:23840811 
  32. TFEB regulates lysosomal proteostasis. Hum Mol Genet. 2013;22(10):1994-2009. PMID:23393155 
  33. Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Res. 2012;22(6):1163-72. PMCID:PMC3371699  PMID:22345618 
  34. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Hum Mol Genet. 2011;20(19):3852-66. PMID:21752829 
  35. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell. 2011;21(3):421-30. PMCID:PMC3173716  PMID:21889421 
  36. HOCTAR database: a unique resource for microRNA target prediction. Gene. 2011;480(1-2):51-8. PMCID:PMC3113163  PMID:21435384 
  37. TFEB links autophagy to lysosomal biogenesis. Science. 2011;332(6036):1429-33. PMCID:PMC3638014  PMID:21617040 
  38. Lysosomal enhancement: a CLEAR answer to cellular degradative needs. Cell Cycle. 2009;8(24):4021-2. PMID:19949301 
  39. A gene network regulating lysosomal biogenesis and function. Science. 2009;325(5939):473-7. PMID:19556463 
  40. MicroRNA target prediction by expression analysis of host genes. Genome Res. 2009;19(3):481-90. PMCID:PMC2661810  PMID:19088304 
  41. Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties. BMC Evol Biol. 2008;8:225. PMCID:PMC2533329  PMID:18673550 
  42. Physical and functional characterization of the genetic locus of IBtk, an inhibitor of Bruton's tyrosine kinase: evidence for three protein isoforms of IBtk. Nucleic Acids Res. 2008;36(13):4402-16. PMCID:PMC2490745  PMID:18596081 
  43. The UniTrap resource: tools for the biologist enabling optimized use of gene trap clones. Nucleic Acids Res. 2008;36(Database issue):D741-6. PMCID:PMC2238955  PMID:17942430 
  44. A novel view of the transcriptome revealed from gene trapping in mouse embryonic stem cells. Genome Res. 2007;17(7):1051-60. PMCID:PMC1899116  PMID:17540781 
  45. Tagging genes with cassette-exchange sites. Nucleic Acids Res. 2005;33(4):e44. PMCID:PMC552971  PMID:15741177 
  46. Energy biogenesis: one key for coordinating two genomes. Trends Genet. 2005;21(1):12-6. PMID:15680507 
  47. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Hum Mol Genet. 2005;14:3203-17. PMID:16174644 
  48. A comparative study of the porin genes encoding VDAC, a voltage-dependent anion channel protein, in Anopheles gambiae and Drosophila melanogaster. Gene. 2003;317(1-2):111-5. PMID:14604798 
  49. MitoDrome: a database of Drosophila melanogaster nuclear genes encoding proteins targeted to the mitochondrion. Nucleic Acids Res. 2003;31(1):322-4. PMCID:PMC165570  PMID:12520013 
Last updated: 10/31/2022
© 2022 by Washington University in St. Louis
One Brookings Drive, St. Louis, MO 63130