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S

Stephen C. Pak

washington university

33H-index
126Paper Count
9.1KCitation Count
Published Papers 42
Publication Date
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A pathogenic Tau mutation drives autophagy-lysosome dysfunction that limits Tau degradation in a model of frontotemporal dementia
errNature Communications
IF15.7
err2026-03-31
err0
errOAAI
errFarzaneh S. Mirfakhar; Jacob A. Marsh; Chihiro Sato; Kylie J. Schache; Miguel A. Minaya; Roland E. Dolle; Stephen C. Pak; Gary A. Silverman; David H. Perlmutter; Shannon L. Macauley; Celeste M. Karch
errShare
errSave
ATG-3 limits Orsay virus infection in C. elegans and regulates collagen pathways
errPLOS PATHOGENS
IF4.9
err2025-11-01
err0
PREAI
errKalugotla, Gowri; Marmerstein, Vivien; Schriefer, Lawrence A.; Wang, Leran; Morrison, Stephanie A.; Perez, Luis Casorla; Silverman, Gary A.; Schedl, Tim; Pak, Stephen C.; Baldridge, Megan T.
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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err0
errOAAI
errZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.
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errSave
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency
errHEPATOLOGY
IF15.8
err2024-04-01
err0
errOAAI
errTafaleng, Edgar N.; Li, Jie; Wang, Yan; Hidvegi, Tunda; Soto-Gutierrez, Alex; Locke, Adam E.; Nicholas, Thomas J.; Wang, Yung-Chun; Pak, Stephen; Cho, Michael H.; Silverman, Edwin K.; Silverman, Gary A.; Jin, Sheng Chih; Fox, Ira J.; Perlmutter, David H.
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errSave
Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in a1-Antitrypsin Deficiency
errCELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
IF7.4
err2024-01-01
err1
errOAAI
errLi, Jie; Moretti, Francesca; Hidvegi, Tunda; Sviben, Sanja; Fitzpatrick, James A. J.; Sundaramoorthi, Hemalatha; Pak, Stephen C.; Silverman, Gary A.; Knapp, Britta; Filipuzzi, Ireos; Alford, John; Reece-Hoyes, John; Nigsch, Florian; Murphy, Leon O.; Nyfeler, Beat; Perlmutter, David H.
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errSave
Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1-TFEB pathway to Huntington's disease neurodegeneration
errNATURE AGING
IF19.4
err2023-12-08
err5
errOAAI
errLee, Seong Won; Oh, Young Mi; Victor, Matheus B.; Yang, Yan; Chen, Shawei; Strunilin, Ilya; Dahiya, Sonika; Dolle, Roland E.; Pak, Stephen C.; Silverman, Gary A.; Perlmutter, David H.; Yoo, Andrew S.
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errSave
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling
errPLOS GENETICS
IF3.7
err2023-11-07
err5
errOAAI
errMarom, Ronit; Zhang, Bo; Washington, Megan E.; Song, I-Wen; Burrage, Lindsay C.; Rossi, Vittoria C.; Berrier, Ava S.; Lindsey, Anika; Lesinski, Jacob; Nonet, Michael L.; Chen, Jian; Baldridge, Dustin; Silverman, Gary A.; Sutton, V. Reid; Rosenfeld, Jill A.; Tran, Alyssa A.; Hicks, M. John; Murdock, David R.; Dai, Hongzheng; Weis, Maryann; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Caswell, Richard; Pottinger, Carrie; Cilliers, Deirdre; Stals, Karen; Eyre, David; Krakow, Deborah; Schedl, Tim; Pak, Stephen C.; Lee, Brendan H.
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errSave
Macrocephaly and developmental delay caused by missense variants in RAB5C
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-08-08
err3
errOAAI
errKoop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter
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errSave
Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z
errGASTROENTEROLOGY
IF25.1
err2022-07-01
err0
errOAAI
errRudnick, David A.; Huang, Jiansheng; Hidvegi, Tunda; Chu, Andrew S.; Hale, Pamela; Munanairi, Admire; Dietzen, Dennis J.; Cliften, Paul F.; Tycksen, Eric; Lutkewitte, Andrew J.; Finck, Brian N.; Pak, Stephen C.; Silverman, Gary A.; Perlmutter, David H.
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errSave
The autophagy gene Epg5 promotes susceptibility to enteric viral infection
errJOURNAL OF IMMUNOLOGY
IF3.4
err2022-05-01
err0
PREAI
errKalugotla, Gowri; Lee, Sanghyun; Schriefer, Lawrence; Perez, Luis Alberto Casorla; Huang, Huiyan; Lu, Qun; Orvedahl, Anthony; Silverman, Gary; Pak, Stephen; Wang, David; Baldridge, Megan T.
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errSave
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-05-01
err6
errOAAI
errFielder, Sara M.; Rosenfeld, Jill A.; Burrage, Lindsay C.; Emrick, Lisa; Lalani, Seema; Attali, Ruben; Bembenek, Joshua N.; Hieu Hoang; Baldridge, Dustin; Silverman, Gary A.; Schedl, Tim; Pak, Stephen C.
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errSave
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C
errPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
err2022-02-04
err14
errOAAI
errHuang, Huiyan; Pan, Jiehong; Spielberg, David R.; Hanchard, Neil A.; Scott, Daryl A.; Burrage, Lindsay C.; Dai, Hongzheng; Murdock, David; Rosenfeld, Jill A.; Mohammad, Ariz; Huang, Tao; Lindsey, Anika G.; Kim, Hyori; Chen, Jian; Ramu, Avinash; Morrison, Stephanie A.; Dawson, Zachary D.; Hu, Alex Z.; Tycksen, Eric; Silverman, Gary A.; Baldridge, Dustin; Wambach, Jennifer A.; Pak, Stephen C.; Brody, Steven L.; Schedl, Tim
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errSave
Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins
errCOMMUNICATIONS BIOLOGY
IF5.1
err2022-01-12
err12
errOAAI
errLuke, Cliff J.; Markovina, Stephanie; Good, Misty; Wight, Ira E.; Thomas, Brian J.; Linneman, John M.; Lanik, Wyatt E.; Koroleva, Olga; Coffman, Maggie R.; Miedel, Mark T.; Gong, Qingqing; Andress, Arlise; Guerrero, Marlene Campos; Wang, Songyan; Chen, LiYun; Beatty, Wandy L.; Hausmann, Kelsey N.; White, Frances, V; Fitzpatrick, James A. J.; Orvedahl, Anthony; Pak, Stephen C.; Silverman, Gary A.
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errSave
SERPINB3 (SCCA1) inhibits cathepsin L and lysoptosis, protecting cervical cancer cells from chemoradiation
errCOMMUNICATIONS BIOLOGY
IF5.1
err2022-01-12
err20
errOAAI
errWang, Songyan; Luke, Cliff J.; Pak, Stephen C.; Shi, Victoria; Chen, Liyun; Moore, Jonathan; Andress, Arlise P.; Jayachandran, Kay; Zhang, Jin; Huang, Yi; Platik, Marina; Apicelli, Anthony A.; Schwarz, Julie K.; Grigsby, Perry W.; Silverman, Gary A.; Markovina, Stephanie
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errSave
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2021-09-01
err7
errOAAI
errBoulin, Thomas; Itani, Omar; El Mouridi, Sonia; Leclercq-Blondel, Alice; Gendrel, Marie; Macnamara, Ellen; Soldatos, Ariane; Murphy, Jennifer L.; Gorman, Mark P.; Lindsey, Anika; Shimada, Shino; Turner, Darian; Silverman, Gary A.; Baldridge, Dustin; Malicdan, May C.; Schedl, Tim; Pak, Stephen C.
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errSave
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2021-05-07
err53
errOAAI
errBaldridge, Dustin; Wangler, Michael F.; Bowman, Angela N.; Yamamoto, Shinya; Schedl, Tim; Pak, Stephen C.; Postlethwait, John H.; Shin, Jimann; Solnica-Krezel, Lilianna; Bellen, Hugo J.; Westerfield, Monte
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errSave
Quantitative assessment of cell fate decision between autophagy and apoptosis
errSCIENTIFIC REPORTS
IF3.9
err2017-12-14
err29
errOAAI
errLiu, Bing; Oltvai, Zoltan N.; Bayir, Hulya; Silverman, Gary A.; Pak, Stephen C.; Perlmutter, David H.; Bahar, Ivet
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errSave
Serum squamous cell carcinoma antigen as an early indicator of response during therapy of cervical cancer
errBRITISH JOURNAL OF CANCER
IF6.8
err2017-11-07
err54
errOAAI
errMarkovina, Stephanie; Wang, Songyan; Henke, Lauren E.; Luke, Cliff J.; Pak, Stephen C.; DeWees, Todd; Pfeifer, John D.; Schwarz, Julie K.; Liu, Weijun; Chen, Shuai; Mutch, David; Wang, Xiaowei; Powell, Matthew A.; Siegel, Barry A.; Dehdashti, Farrokh; Silverman, Gary A.; Grigsby, Perry W.
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Squamous Cell Carcinoma Antigen Mediates Radiation Resistance in Cervical Cancer
errINTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS
IF6.5
err2017-10-01
err1
errOAAI
errMarkovina, S.; Wang, S.; Cosper, P.; Luke, C.; Pak, S.; Liu, W.; Chen, S.; Schwarz, J. K.; Wang, X.; Silverman, G.; Grigsby, P. W.
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errSave
Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2015-12-01
err29
errOAAI
errHidvegi, Tunda; Stolz, Donna B.; Alcorn, John F.; Yousem, Samuel A.; Wang, Jieru; Leme, Adriana S.; Houghton, A. McGarry; Hale, Pamela; Ewing, Michael; Cai, Houming; Garchar, Evelyn Akpadock; Pastore, Nunzia; Annunziata, Patrizia; Kaminski, Naftali; Pilewski, Joseph; Shapiro, Steven D.; Pak, Stephen C.; Silverman, Gary A.; Brunetti-Pierri, Nicola; Perlmutter, David H.
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Research Directions

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Co-authors
Cooperation Journals
K
Kāri Stefánsson
H-index: 219 · Papers: 1.2K
R
Richard A. Gibbs
H-index: 190 · Papers: 1.3K
S
Simon C. Watkins
H-index: 147 · Papers: 1.1K
E
Edwin K. Silverman
H-index: 134 · Papers: 1.1K
A
Adel K. El‐Naggar
H-index: 132 · Papers: 1.3K
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