Recent publications
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay
May 1, 2022
Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA; Undiagnosed Diseases Network, Schedl T, Pak SC. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. Mol Genet Metab. 2022 May;136(1):65-73. doi: 10.1016/j.ymgme.2022.03.007. Epub 2022 Mar 22. PMID: 35361529.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C
February 8, 2022
Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA; Undiagnosed Diseases Network, Pak SC, Brody SL, Schedl T. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2105228119. doi: 10.1073/pnas.2105228119. PMID: 35121658; PMCID: PMC8832968.
Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins
January 12, 2022
Luke CJ, Markovina S, Good M, Wight IE, Thomas BJ, Linneman JM, Lanik WE, Koroleva O, Coffman MR, Miedel MT, Gong Q, Andress A, Campos Guerrero M, Wang S, Chen L, Beatty WL, Hausmann KN, White FV, Fitzpatrick JAJ, Orvedahl A, Pak SC, Silverman GA. Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins. Commun Biol. 2022 Jan 12;5(1):47. doi: 10.1038/s42003-021-02953-x. PMID: 35022507; PMCID: PMC8755814.
SERPINB3 (SCCA1) inhibits cathepsin L and lysoptosis, protecting cervical cancer cells from chemoradiation
January 12, 2022
Wang S, Luke CJ, Pak SC, Shi V, Chen L, Moore J, Andress AP, Jayachandran K, Zhang J, Huang Y, Platik M, Apicelli AA, Schwarz JK, Grigsby PW, Silverman GA, Markovina S. SERPINB3 (SCCA1) inhibits cathepsin L and lysoptosis, protecting cervical cancer cells from chemoradiation. Commun Biol. 2022 Jan 12;5(1):46. doi: 10.1038/s42003-021-02893-6. PMID: 35022555; PMCID: PMC8755728.
A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover
October 1, 2014
Long OS, Benson JA, Kwak JH, Luke CJ, Gosai SJ, O’Reilly LP, Wang Y, Li J, Vetica AC, Miedel MT, Stolz DB, Watkins SC, Züchner S, Perlmutter DH, Silverman GA, Pak SC. A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover. Hum Mol Genet. 2014 Oct 1;23(19):5109-22. doi: 10.1093/hmg/ddu235. Epub 2014 May 16. PMID: 24838286; PMCID: PMC4159155.
An intracellular serpin regulates necrosis by inhibiting the induction and sequelae of lysosomal injury
September 21, 2007
Luke CJ, Pak SC, Askew YS, Naviglia TL, Askew DJ, Nobar SM, Vetica AC, Long OS, Watkins SC, Stolz DB, Barstead RJ, Moulder GL, Brömme D, Silverman GA. An intracellular serpin regulates necrosis by inhibiting the induction and sequelae of lysosomal injury. Cell. 2007 Sep 21;130(6):1108-19. doi: 10.1016/j.cell.2007.07.013. PMID: 17889653; PMCID: PMC2128786.
Recent publications
- Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsUndiagnosed Diseases Network, Dec 2024, In: Nature communications. 15, 1, 7909.Research output: Contribution to journal › Article › peer-review
- Brain malformations and seizures by impaired chaperonin function of TRiCKraft, F., Rodriguez-Aliaga, P., Yuan, W., Franken, L., Zajt, K., Hasan, D., Lee, T. T., Flex, E., Hentschel, A., Innes, A. M., Zheng, B., Suh, D. S. J., Knopp, C., Lausberg, E., Krause, J., Zhang, X., Trapane, P., Carroll, R., McClatchey, M. & Fry, A. E. & 67 others, Wang, L., Giesselmann, S., Hoang, H., Baldridge, D., Silverman, G., Radio, F. C., Bertini, E., Ciolfi, A., Blood, K. A., de Sainte Agathe, J. M., Charles, P., Bergant, G., Čuturilo, G., Peterlin, B., Diderich, K., Streff, H., Robak, L., Oegema, R., van […]
- Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiencyTafaleng, E. N., Li, J., Wang, Y., Hidvegi, T., Soto-Gutierrez, A., Locke, A. E., Nicholas, T. J., Wang, Y. C., Pak, S., Cho, M. H., Silverman, E. K., Silverman, G. A., Jin, S. C., Fox, I. J. & Perlmutter, D. H., Oct 1 2024, In: Hepatology. 80, 4, p. 859-871 13 p.Research output: Contribution to journal › Article › peer-review
- Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin DeficiencyLi, J., Moretti, F., Hidvegi, T., Sviben, S., Fitzpatrick, J. A. J., Sundaramoorthi, H., Pak, S. C., Silverman, G. A., Knapp, B., Filipuzzi, I., Alford, J., Reece-Hoyes, J., Nigsch, F., Murphy, L. O., Nyfeler, B. & Perlmutter, D. H., Jan 2024, In: CMGH. 17, 6, p. 1007-1024 18 p.Research output: Contribution to journal › Article › peer-review
- Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1–TFEB pathway to Huntington’s disease neurodegenerationLee, S. W., Oh, Y. M., Victor, M. B., Yang, Y., Chen, S., Strunilin, I., Dahiya, S., Dolle, R. E., Pak, S. C., Silverman, G. A., Perlmutter, D. H. & Yoo, A. S., Jan 2024, In: Nature Aging. 4, 1, p. 95-109 15 p.Research output: Contribution to journal › Article › peer-review
- Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signalingMarom, R., Zhang, B., Washington, M. E., Song, I. W., Burrage, L. C., Rossi, V. C., Berrier, A. S., Lindsey, A., Lesinski, J., Nonet, M. L., Chen, J., Baldridge, D., Silverman, G. A., Sutton, V. R., Rosenfeld, J. A., Tran, A. A., Hicks, M. J., Murdock, D. R., Dai, H. & Weis, M. A. & 12 others, Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Caswell, R., Pottinger, C., Cilliers, D., Stals, K., Eyre, D., Krakow, D., Schedl, T., Pak, S. C. & Lee, B. H., […]
- Macrocephaly and developmental delay caused by missense variants in RAB5CKoop, K., Yuan, W., Tessadori, F., Rodriguez-Polanco, W. R., Grubbs, J., Zhang, B., Osmond, M., Graham, G., Sawyer, S., Conboy, E., Vetrini, F., Treat, K., Płoski, R., Pienkowski, V. M., Kłosowska, A., Fieg, E., Krier, J., Mallebranche, C., Alban, Z. & Aldinger, K. A. & 28 others, Ritter, D., MacNamara, E., Sullivan, B., Herriges, J., Alaimo, J. T., Helbig, C., Ellis, C. A., Van Eyk, C., Gecz, J., Farrugia, D., Osei-Owusu, I., Adès, L., Van Den Boogaard, M. J., Fuchs, S., Bakker, J., Duran, K., Dawson, Z. D., Lindsey, A., Huang, […]
- SERPINB3 (SCCA1) inhibits cathepsin L and lysoptosis, protecting cervical cancer cells from chemoradiationWang, S., Luke, C. J., Pak, S. C., Shi, V., Chen, L., Moore, J., Andress, A. P., Jayachandran, K., Zhang, J., Huang, Y., Platik, M., Apicelli, A. A., Schwarz, J. K., Grigsby, P. W., Silverman, G. A. & Markovina, S., Dec 2022, In: Communications Biology. 5, 1, 46.Research output: Contribution to journal › Article › peer-review
- Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpinsLuke, C. J., Markovina, S., Good, M., Wight, I. E., Thomas, B. J., Linneman, J. M., Lanik, W. E., Koroleva, O., Coffman, M. R., Miedel, M. T., Gong, Q., Andress, A., Campos Guerrero, M., Wang, S., Chen, L. Y., Beatty, W. L., Hausmann, K. N., White, F. V., Fitzpatrick, J. A. J. & Orvedahl, A. & 2 others, Pak, S. C. & Silverman, G. A., Dec 2022, In: Communications Biology. 5, 1, 47.Research output: Contribution to journal › Article › peer-review
- Age-related Huntington’s disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagyOh, Y. M., Lee, S. W., Kim, W. K., Chen, S., Church, V. A., Cates, K., Li, T., Zhang, B., Dolle, R. E., Dahiya, S., Pak, S. C., Silverman, G. A., Perlmutter, D. H. & Yoo, A. S., Nov 2022, In: Nature neuroscience. 25, 11, p. 1420-1433 14 p.Research output: Contribution to journal › Article › peer-review