Stephen Pak

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Stephen Pak

Professor of Pediatrics

 https://orcid.org/0000-0002-8089-3237

    Willing to Mentor

    Available to Mentor:

    PhD Students

    • 7694
      Citations
    1996 …2026

    Research activity per year

    Personal profile

    Research interests

    Protein homeostasis or proteostasis is a highly complex and interconnected pathway that regulates the fate of a protein by controlling its biogenesis, folding, trafficking and degradation. Maintenance of proper cellular proteostasis is crucial for ensuring normal development, healthy aging and resistance to environmental stresses. Excessive accumulation of misfolded proteins can disrupt proteostasis and is the cause of many diseases including Alzheimer’s disease, Huntington’s disease and Parkinson’s disease. The cellular mechanisms that are triggered to cope with misfolded proteins are complex and vary depending on the nature of the misfolded protein, its subcellular localization, and the protein degradation pathways employed. A global understanding of the cellular responses could enable the development of novel therapeutic strategies that restore proteostasis and normal health. My current research is focused on modeling protein aggregation disorders in C. elegans and employing innovative, high-throughput strategies to 1) gain a comprehensive understanding of the genetic mechanisms that underlie the disease, and 2) identify therapeutic compounds.

    Available to Mentor:

    • PhD Students

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    • Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

      Undiagnosed Diseases Network, Stewart, R., Ezell, K. M., Bell, D. S., Corner, B., McMinn, A., Cogan, J. D., Hamid, R., Rives, L., Phillips, J. A., Paddu, N., Srivastava, G., Marom, R., Ladha, F. A., Soler-Alfonso, C., Franciskovich, R., Koziura, M., Pruthi, S., Richard, G. & Sheedy, C. B. & 181 others, Quinlan, A., Elkadri, A., Vanderver, A., Rebelo, A., Beggs, A. H., La Spada, A. R., Huang, A., Paul, A., Miller, A., Al-Beshri, A., Ward, A., Bale, A., McConkie-Rosell, A., Tran, A. A., Gropman, A., Vargas, A., Crouse, A. B., Stergachis, A., Hurst, A., Raper, A., Tarakad, A., Andrews, A., McMinn, A., Balasubramanyam, A., Pusey Swerdzewski, B. N., Anguiano, B., Solomon, B., Martin, B. A., Russell, B. E., Wilk, B. M., Mitchell, B., Lanpher, B. C., Lee, B. H., Fogel, B. L., Bordini, B., Graham, B. H., Corner, B., Tucker, B., Korf, B., MacRae, C. A., Toro, C., Skraban, C., Bacino, C. A., Oladele, C., Hendry, C., Smith, C. A., Esteves, C., Xiao, C., Reuter, C. M., Eng, C. M., Chan, C. H., Wahl, C. E., Welt, C. K., Tifft, C. J., Kiley, D., Rader, D. J., Wegner, D., Miller, D., Scott, D. A., Viskochil, D., Sweetser, D. A., Adams, D. R., Barbouth, D., Rao, D. A., Oglesbee, D., Bonner, D., Basel, D., Novacic, D., Baldridge, D., Behrens, E., Silverman, E. K., Seto, E., Kravets, E., Rosenthal, E., Worthey, E. A., Burke, E. A., Blue, E., Chao, E. C., Fieg, E. L., Macnamara, E. F., Balton, E., Glanton, E., Shelkowitz, E., Wang, E., Allenspach, E., Klee, E., Vilain, E., Conboy, E., Baldwin, E. E., McRoy, E., Dell’Angelica, E. C., Ashley, E. A., Cole, F. S., Pinto, F., High, F., Vetrini, F., Rossignol, F., Bustos, F., Hisama, F. M., Marth, G., Jarvik, G. P., Clark, G. D., Carvalho, G., Berry, G. T., Mirzaa, G., Sirugo, G., Kilich, G., Bademci, G., Mendez, H. R., Wood, H., Taylor, H., Tabor, H. K., Dai, H., Chao, H. T., Xu, H., Bellen, H. J., Zhang, H., Glass, I., Lanza, I. R., Holm, I. A., Kohane, I. S., Ward, I., Chinn, I., Pallais, J. C., Sampson, J. B., Orengo, J. P., Verbsky, J., Sninsky, J., Hom, J., Schend, J., Kohler, J. N., Posey, J. E., Morgan, J., Schymick, J., Wambach, J., Douglas, J., Fu, J., Rosenfeld, J. A., Shin, J., Stoler, J. M., Gonzalez, J. M., Phillips, J. A., Carey, J., Gorzynski, J. E., Mulvihill, J. J., Davis, J., Bernstein, J. A., Whitlock, J., Abdenur, J., Loscalzo, J., Cogan, J. D., Martínez-Agosto, J. A., McCarrier, J., Alvey, J., Darr, K., Callaway, K., Leppig, K. A., Sullivan, K., Sisco, K., Singh, K., Dipple, K., Treat, K. M., Hassey, K., Schoch, K., Smith, K. S., Liaqat, K., Worley, K., Ezell, K., LeBlanc, K., Latchman, K., Rodan, L. H., Keehan, L., Pace, L., Cobban, L. A., Blieden, L., Briere, L. C., Jeffries, L., Solnica-Krezel, L., Dickson, P., Pak, S. & Schedl, T., Jan 2026, In: American Journal of Medical Genetics, Part A. 200, 1, p. 205-214 10 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access

    • Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

      Undiagnosed Diseases Network, Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63904.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      4 Scopus citations

    • A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

      Undiagnosed Diseases Network, Aug 2025, In: Genetics in Medicine. 27, 8, 101462.

      Research output: Contribution to journal › Article › peer-review

    • An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

      Undiagnosed Diseases Network, Cooperstein, I. B., Marwaha, S., Ward, A., Kobren, S. N., Carter, J. N., Guo, Z., Berger, Z. D., Manabe, Y., Jiang, Y. H., Karasozen, Y., Huang, Y., Timp, W., Halstead, W., Craigen, W. J., Byrd, W. E., Gahl, W. A., Thorson, W., Raskind, W. & Introne, W. & 181 others, Cuddapah, V., Sybert, V., Vasiliou, V., Shashi, V., Maduro, V. V., Jobanputra, V., Vogel, T. P., Schedl, T., Nicholas, T. J., Cassini, T., Coakley, T. R., Serrano, T. J., Washington, T., Maurer, T., Beagle, T., Mamidi, T. K. K., Jensen, T. D., Skelton, T., Mozaffar, T., Sandmeyer, S., Shin, S., Korrick, S., Dasari, S., Bachir, S., Boyden, S., Pak, S. C., Montgomery, S. B., Ware, S. M., Bivona, S., Zuchner, S., Nelson, S. F., Chanprasert, S., Mane, S., Yamamoto, S., Kobren, S. N., Sunyaev, S. R., Ketkar, S., Perlman, S., Lalani, S. R., Shuman, S., Emami, S., Nagamani, S., Attaripour, S., Butterfield, R., Kumar, R., Corona, R. I., Marom, R., Mao, R., Hamid, R., Maas, R. L., Chang, R., Lewis, R. A., Barrick, R., Overbury, R., Ganetzky, R., Spillmann, R. C., Blackburn, R., Alvarez, R. L., Rajagopalan, R., Quarells, R. C., Li, R., Evard, R., Ungar, R. A., Tan, Q., D’Souza, P., Lertwilaiwittaya, P., Bayrak-Toydemir, P., Witmer, P. D., Byers, P., Liu, P., Fisher, P. G., Berger, P., Auwaerter, P., McMullen, P., Dickson, P., Ward, P. A., Moretti, P., Goddard, P. C., Jean-Marie, O., Kanca, O., Kaufman, O., Dargie, N. K., Walley, N. M., Longo, N., Borja, N., Hanchard, N., Parker, N. H., Sobreira, N., Dorrani, N., Derar, N., Tekin, M., Westerfield, M., Lek, M., Hubshman, M. W., Saifeddine, M., Mikati, M., Leitheiser, M., Spencer-Manzon, M., Zimmermann, M. T., Muriello, M., Wangler, M. F., Bamshad, M., Levanto, M., Walker, M., Halley, M. C., Bell, M., Malicdan, M. C. V., Wheeler, M. T., Robinson, M., Might, M., Coggins, M., Velinder, M., Koziura, M., Rodriguez, M., Martin, M. G., Horike-Pyne, M., Sabaii, M., Wener, M., Gerstein, M., Shadrina, M., Nakano-Okuno, M., Morimoto, M., Acosta, M. T., Silva, M. P., Romero, M. J. O., Delgado, M., Balwani, M., Butte, M. J., Steenari, M. R., Barbosa, M., Wolfe, L. A., Rives, L., Bier, L., Potocki, L., Botto, L., Emrick, L. T., Schimmenti, L., Bastarache, L., Mulvihill, L., Burrage, L. C., Solnica-Krezel, L., Mantcheva, L., Peart, L., Petcharet, L., Abi Farraj, L. F., Wiel, L., Jeffries, L., Briere, L. C., Blieden, L., Cobban, L. A., Keehan, L., Rodan, L. H., Perera, L., Latchman, K., Blanco, K., LeBlanc, K., Ezell, K., Worley, K., Liaqat, K., Smith, K. S., Schoch, K., Regan-Fendt, K., Hassey, K., Treat, K. M., Dipple, K., Sisco, K., Sullivan, K., Page, K., Leppig, K. A., Callaway, K., Yap, K. L., Darr, K., Alvey, J., McCarrier, J., Hoover-Fong, J., Martínez-Agosto, J. A., Cogan, J. D., Shin, J., Wambach, J., Cole, F. S. & Baldridge, D., Dec 2025, In: Genome medicine. 17, 1, 127.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      1 Scopus citations

    • ATG-3 limits Orsay virus infection in C. elegans and regulates collagen pathways

      Kalugotla, G., Marmerstein, V., Schriefer, L. A., Wang, L., Morrison, S. A., Perez, L. C., Silverman, G. A., Schedl, T., Pak, S. C. & Baldridge, M. T., Nov 2025, In: PLoS pathogens. 21, 11 NOVEMBER, e1012900.

      Research output: Contribution to journal › Article › peer-review

      Open Access
    View all 142 Research outputs