Publications by authors named "Stephen Pak"

Claim this Profile
N
Null Mutant Shows Touch Receptor Neuron Migration Defects in .
Sara DaCunha, Gary A Silverman, Tim Schedl, Stephen C Pak, Sara M Fielder

MicroPubl Biol· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Developing Topics.
Farzane S Mirfakhar, Jacob Marsh, Miguel Minaya, Stephen Pak, Gary Silverman

Alzheimers Dement· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ATG-3 limits Orsay virus infection in C. elegans and regulates collagen pathways.
Gowri Kalugotla, Vivien Marmerstein, Lawrence A Schriefer, Leran Wang, Stephanie A Morrison, Stephen C Pak

PLoS Pathog· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Sara M Fielder, Marisa W Friederich, Daniella H Hock, Jessie R Zhang, Liana M Valin, Stephen C Pak

EMBO Mol Med· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sequelae and reversal of age-dependent alterations in mitochondrial dynamics via autophagy enhancement in reprogrammed human neurons.
Eva Klinman, Ji-Sun Kwon, Roland E Dolle, Stephen C Pak, Gary A Silverman

bioRxiv· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Sara M Fielder, Marisa W Friederich, Daniella H Hock, Jessie R Zhang, Liana M Valin, Stephen C Pak

medRxiv· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, Wu-Lin Charng, Tanvitha Kotla, Stephen C Pak

Am J Hum Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ATG-3 limits Orsay virus infection in through regulation of collagen pathways.
Gowri Kalugotla, Vivien Marmerstein, Lawrence A Schriefer, Leran Wang, Stephanie Morrison, Stephen C Pak

bioRxiv· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Brain malformations and seizures by impaired chaperonin function of TRiC.
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Stephen C Pak

Science· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.
Edgar N Tafaleng, Jie Li, Yan Wang, Tunda Hidvegi, Alex Soto-Gutierrez, Stephen Pak

Hepatology· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Stephen C Pak

Nat Commun· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A fluorescent reporter for rapid assessment of autophagic flux reveals unique autophagy signatures during post-embryonic development and identifies compounds that modulate autophagy.
Zachary D Dawson, Hemalatha Sundaramoorthi, Suk Regmi, Bo Zhang, Stephanie Morrison, Stephen C Pak

Autophagy Rep· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin Deficiency.
Jie Li, Francesca Moretti, Tunda Hidvegi, Sanja Sviben, James A J Fitzpatrick, Stephen C Pak

Cell Mol Gastroenterol Hepatol· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1-TFEB pathway to Huntington's disease neurodegeneration.
Seong Won Lee, Young Mi Oh, Matheus B Victor, Yan Yang, Shawei Chen, Stephen C Pak

Nat Aging· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Stephen C Pak

PLoS Genet· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R Rodriguez-Polanco, Jeremy Grubbs, Stephen C Pak

Hum Mol Genet· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Longitudinal modeling of human neuronal aging identifies RCAN1-TFEB pathway contributing to neurodegeneration of Huntington's disease.
Seong Won Lee, Young Mi Oh, Matheus B Victor, Ilya Strunilin, Shawei Chen, Stephen C Pak

Res Sq· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy.
Young Mi Oh, Seong Won Lee, Woo Kyung Kim, Shawei Chen, Victoria A Church, Stephen C Pak

Nat Neurosci· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z.
David A Rudnick, Jiansheng Huang, Tunda Hidvegi, Andrew S Chu, Pamela Hale, Stephen C Pak

Gastroenterology· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.
Sara M Fielder, Jill A Rosenfeld, Lindsay C Burrage, Lisa Emrick, Seema Lalani, Stephen C Pak

Mol Genet Metab· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Thomas Boulin, Omar Itani, Sonia El Mouridi, Alice Leclercq-Blondel, Marie Gendrel, Stephen C Pak

Mol Genet Metab· February 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A dominant negative variant of disrupts maturation of surfactant protein B and surfactant protein C.
Huiyan Huang, Jiehong Pan, David R Spielberg, Neil A Hanchard, Daryl A Scott, Stephen C Pak

Proc Natl Acad Sci U S A· February 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins.
Cliff J Luke, Stephanie Markovina, Misty Good, Ira E Wight, Brian J Thomas, Stephen C Pak

Commun Biol· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SERPINB3 (SCCA1) inhibits cathepsin L and lysoptosis, protecting cervical cancer cells from chemoradiation.
Songyan Wang, Cliff J Luke, Stephen C Pak, Victoria Shi, Liyun Chen

Commun Biol· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Dustin Baldridge, Michael F Wangler, Angela N Bowman, Shinya Yamamoto, , Stephen C Pak

Orphanet J Rare Dis· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis