Stephen Pak

Professor

Washington University in Saint Louis School of Medicine

United States

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Articles (11)

Year:

2024

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2024

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2023

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2023

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2023

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2022

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2022

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2022

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2022

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2021

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2020

Collaborators (11)

Anthony Apicelli

Assistant Professor

Washington University in St. Louis

UNITED STATES

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Bo Zhang

Associate Professor

Washington University in St. Louis

UNITED STATES

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Liyun Chen

Washington University in St. Louis

UNITED STATES

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Jin Zhang

Assistant Professor

Washington University in St. Louis

UNITED STATES

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Marie Gendrel

Maître de Conférences (Assistant Professor)

Institut de Biologie de l'Ecole Normale Supérieure

FRANCE

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Andrew Yoo

Professor

Washington University in Saint Louis School of Medicine

UNITED STATES

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Sonika Dahiya

Washington University in St. Louis

UNITED STATES

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Federico Tessadori

Hubrecht Institute

NETHERLANDS

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Matheus Victor

Assistant Professor

Icahn School of Medicine at Mount Sinai

UNITED STATES

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Seong Won Lee

Assistant Professor

Mercer University

UNITED STATES

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ariane soldatos

National Institute of Neurological Disorders and Stroke

UNITED STATES

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Stephen Pak

Research Interests

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Articles (11)

Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.

Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin Deficiency.

Macrocephaly and developmental delay caused by missense variants in RAB5C

Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1–TFEB pathway to Huntington’s disease neurodegeneration

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

Age-related Huntington’s disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy

SERPINB3 (SCCA1) inhibits cathepsin L and lysoptosis, protecting cervical cancer cells from chemoradiation.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.

A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein C.

Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.

Mechanisms of Action of Autophagy Modulators Dissected by Quantitative Systems Pharmacology Analysis.

Collaborators (11)

Anthony Apicelli

Bo Zhang

Liyun Chen

Jin Zhang

Marie Gendrel

Andrew Yoo

Sonika Dahiya

Federico Tessadori

Matheus Victor

Seong Won Lee

ariane soldatos

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