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.