Stephen C. Pak, Ph.D.

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Associate Professor of Pediatrics, Newborn Medicine
Newborn Medicine

phone: (314) 454-6148


  • BSc, University of Sydney1990
  • BS, with Honors, University of Sydney1991
  • PhD, University of New South Wales1996


  • Professional Officer - Mammalian Cell Biotechnology, University of New South Wales1997 - 1997
  • Post-doctoral Fellow - Serpin Biology/C. elegans Genetics , Harvard Medical School and Childrens Hospital Boston1998 - 2001

Honors and Awards

  • Industrial Research and Development Board Ph.D. Scholarship, Department of Industry, Science and Technology, Australia1992 - 1996
  • Breast Cancer Scholar, Breast Cancer Research Award, Massachusetts Department of Public Health2000 - 2002
  • Innovation Award, Children’s Hospital Pittsburgh Scientific Program2008 - 2009
  • Cellome Award, High-Content Analysis Conference, Most Influential Published Manuscript in 20102011
  • LEAP Inventor Challenge Award2018 - 2019

Recent Publications view all (52)

Publication Co-Authors

  1. Huntington’s disease progression captured by directly reprogrammed striatal neurons reveals microRNA-mediated neurodegeneration. Nature Neuroscience (Accepted). 2022. 
  2. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay Mol Genet Metab. . 2022.  
  3. Regulation of PGC1α downstream of the insulin signaling pathway plays a role in the hepatic proteotoxicity of mutant α1-antitrypsin deficiency variant Z. Gastroenterology. 2022. PMID:35301011 
  4. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022;119(6). PMCID:PMC8832968  PMID:35121658 
  5. Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins. Commun Biol. 2022;5(1):47. PMCID:PMC8755814  PMID:35022507 
  6. SERPINB3 (SCCA1) inhibits cathepsin L and lysoptosis, protecting cervical cancer cells from chemoradiation. Commun Biol. 2022;5(1):46. PMCID:PMC8755728  PMID:35022555 
  7. Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. Mol Genet Metab. 2021;134(1-2):195-202. PMID:34412939 
  8. Mechanisms of Action of Autophagy Modulators Dissected by Quantitative Systems Pharmacology Analysis. Int J Mol Sci. 2020;21(8). PMCID:PMC7215584  PMID:32325894 
  9. CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans. PLoS One. 2019;14(3):e0214257. PMCID:PMC6435234  PMID:30913273 
  10. An analog of glibenclamide selectively enhances autophagic degradation of misfolded α1-antitrypsin Z PLos One. 2019;14:e0209748. PMCID:PMC6343872  PMID:30673724 
  11. Quantitative assessment of cell fate decision between autophagy and apoptosis Sci Rep. 2017;14:17605. PMID:29242632 
  12. Serum squamous cell carcinoma antigen as an early indicator of response during therapy of cervical cancer Br J Cancer. 2017;118 :72-78. PMCID:PMC5765231  
  13. High-Throughput, Liquid-Based Genome-Wide RNAi Screening in C. elegans Methods Mol Biol. 2016;1470:151-62. PMID:27581291 
  14. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016;12(1):1-222. PMCID:PMC4835977  PMID:26799652 
  15. Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy. J Biol Chem. 2015;290(50):29742-57. PMCID:PMC4705969  PMID:26494620 
  16. SERPINB12 Is a Slow-Binding Inhibitor of Granzyme A and Hepsin. Biochemistry. 2015;54(45):6756-9. PMCID:PMC4900762  PMID:26497600 
  17. The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans. Genetics. 2015;200(1):207-19. PMCID:PMC4423363  PMID:25786854 
  18. Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency. PLoS One. 2015;10(10):e0141542. PMCID:PMC4626213  PMID:26512890 
  19. A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency. Hum Mol Genet. 2014;23(19):5123-32. PMCID:PMC4159156  PMID:24838285 
  20. A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover. Hum Mol Genet. 2014;23(19):5109-22. PMCID:PMC4159155  PMID:24838286 
  21. Caenorhabditis elegans: A Model System for Anti-Cancer Drug Discovery and Therapeutic Target Identification. Biomol Ther (Seoul). 2014;22(5):371-83. PMCID:PMC4201220  PMID:25414766 
  22. Worming our way to novel drug discovery with the Caenorhabditis elegans proteostasis network, stress response and insulin-signaling pathways. Expert Opin Drug Discov. 2014;9(9):1021-32. PMID:24998976 
  23. A high-content assay for identifying small molecules that reprogram C. elegans germ cell fate. Methods. 2014;68(3):529-35. PMID:24990146 
  24. A C. elegans model of human α1-antitrypsin deficiency links RNAi to misfolded protein turnover Hum Mol Genet. . 2014;23:5109-22. PMID:24838286 
  25. C. elegans in high-throughput drug discovery. Adv Drug Deliv Rev. 2014;69-70:247-53. PMCID:PMC4019719  PMID:24333896 
  26. α1-antitrypsin deficiency and the hepatocytes - an elegans solution to drug discovery. Int J Biochem Cell Biol. 2014;47:109-12. PMCID:PMC3970812  PMID:24355812 
  27. Fluphenazine reduces proteotoxicity in C. elegans and mammalian models of alpha-1-antitrypsin deficiency. PLoS One. 2014;9(1):e87260. PMCID:PMC3909079  PMID:24498058 
  28. Disorders of protein misfolding: alpha-1-antitrypsin deficiency as prototype. J Pediatr. 2013;163(2):320-6. PMCID:PMC3725216  PMID:23664631 
  29. A pro-cathepsin L mutant is a luminal substrate for endoplasmic-reticulum-associated degradation in C. elegans. PLoS One. 2012;7(7):e40145. PMCID:PMC3388072  PMID:22768338 
  30. Inhibition of Staphylococcus aureus cysteine proteases by human serpin potentially limits staphylococcal virulence. Biol Chem. 2011;392(5):483-9. PMCID:PMC4372843  PMID:21476872 
  31. Using Caenorhabditis elegans to study serpinopathies. Methods Enzymol. 2011;499:259-81. PMCID:PMC4374434  PMID:21683258 
  32. Automated high-content live animal drug screening using C. elegans expressing the aggregation prone serpin α1-antitrypsin Z. PLoS One. 2010;5(11):e15460. PMCID:PMC2980495  PMID:21103396 
  33. Serpins flex their muscle: II. Structural insights into target peptidase recognition, polymerization, and transport functions. J Biol Chem. 2010;285(32):24307-12. PMCID:PMC2915666  PMID:20498368 
  34. Serpins flex their muscle: I. Putting the clamps on proteolysis in diverse biological systems. J Biol Chem. 2010;285(32):24299-305. PMCID:PMC2915665  PMID:20498369 
  35. Modeling molecular and cellular aspects of human disease using the nematode Caenorhabditis elegans. Pediatr Res. 2009;65(1):10-8. PMCID:PMC2731241  PMID:18852689 
  36. An intracellular serpin regulates necrosis by inhibiting the induction and sequelae of lysosomal injury. Cell. 2007;130(6):1108-19. PMCID:PMC2128786  PMID:17889653 
  37. SERPINB11 is a new noninhibitory intracellular serpin. Common single nucleotide polymorphisms in the scaffold impair conformational change. J Biol Chem. 2007;282(34):24948-60. PMID:17562709 
  38. The Caenorhabditis elegans muscle specific serpin, SRP-3, neutralizes chymotrypsin-like serine peptidases. Biochemistry. 2006;45(14):4474-80. PMCID:PMC2654365  PMID:16584183 
  39. Selective conservation of the RSL-encoding, proteinase inhibitory-type, clade L serpins in Caenorhabditis species. Front Biosci. 2006;11:581-94. PMID:16146754 
  40. Identification and activity of a lower eukaryotic serine proteinase inhibitor (serpin) from Cyanea capillata: analysis of a jellyfish serpin, jellypin. Biochemistry. 2004;43(37):11750-9. PMID:15362859 
  41. Comparative genomic analysis of the clade B serpin cluster at human chromosome 18q21: amplification within the mouse squamous cell carcinoma antigen gene locus. Genomics. 2004;84(1):176-84. PMID:15203215 
  42. SRP-2 is a cross-class inhibitor that participates in postembryonic development of the nematode Caenorhabditis elegans: initial characterization of the clade L serpins. J Biol Chem. 2004;279(15):15448-59. PMID:14739286 
  43. Production of recombinant serpins in Escherichia coli. Methods. 2004;32(2):169-76. PMID:14698629 
  44. Human clade B serpins (ov-serpins) belong to a cohort of evolutionarily dispersed intracellular proteinase inhibitor clades that protect cells from promiscuous proteolysis. Cell Mol Life Sci. 2004;61(3):301-25. PMID:14770295 
  45. Inhibition of the cysteine proteinases cathepsins K and L by the serpin headpin (SERPINB13): a kinetic analysis. Arch Biochem Biophys. 2003;409(2):367-74. PMID:12504904 
  46. The serpin SQN-5 is a dual mechanistic-class inhibitor of serine and cysteine proteinases. Biochemistry. 2002;41(9):3189-99. PMID:11863458 
  47. SERPINB12 is a novel member of the human ov-serpin family that is widely expressed and inhibits trypsin-like serine proteinases. J Biol Chem. 2001;276(52):49320-30. PMID:11604408 
  48. Genomic cloning, mapping, structure and promoter analysis of HEADPIN, a serpin which is down-regulated in head and neck cancer cells. Biochim Biophys Acta. 2000;1492(2-3):441-6. PMID:11004515 
  49. Circulating serpin tumor markers SCCA1 and SCCA2 are not actively secreted but reside in the cytosol of squamous carcinoma cells. Int J Cancer. 2000;89(4):368-77. PMID:10956412 
  50. Development of specific monoclonal antibodies and a sensitive discriminatory immunoassay for the circulating tumor markers SCCA1 and SCCA2. Clin Chim Acta. 2000;295(1-2):107-27. PMID:10767398 
  51. Chinese hamster ovary cells produce sufficient recombinant insulin-like growth factor I to support growth in serum-free medium. Serum-free growth of IGF-I-producing CHO cells. Cytotechnology. 1997;24(1):55-64. PMCID:PMC3449609  PMID:22358597 
  52. Super-CHO-A cell line capable of autocrine growth under fully defined protein-free conditions. Cytotechnology. 1996;22(1-3):139-46. PMID:22358924 
Last updated: 08/09/2022
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