Stephen C Pak
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Explore the profile of Stephen C Pak including associated specialties, affiliations and a list of published articles.
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53
Citations
3856
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Recent Articles
1.
Zerafati-Jahromi G, Oxman E, Hoang H, Charng W, Kotla T, Yuan W, et al.
Am J Hum Genet
. 2025 Jan;
112(3):537-553.
PMID: 39879987
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein...
2.
Kalugotla G, Marmerstein V, Schriefer L, Wang L, Morrison S, Perez L, et al.
bioRxiv
. 2025 Jan;
PMID: 39868230
Autophagy is an essential cellular process which functions to maintain homeostasis in response to stressors such as starvation or infection. Here, we report that a subset of autophagy factors including...
3.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, et al.
Science
. 2024 Oct;
386(6721):516-525.
PMID: 39480921
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core...
4.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, et al.
Nat Commun
. 2024 Sep;
15(1):7909.
PMID: 39256359
Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively...
5.
Dawson Z, Sundaramoorthi H, Regmi S, Zhang B, Morrison S, Fielder S, et al.
Autophagy Rep
. 2024 Jul;
3(1).
PMID: 39070663
Autophagy is important for many physiological processes; and disordered autophagy can contribute to the pathogenesis of a broad range of systemic disorders. is a useful model organism for studying the...
6.
Li J, Moretti F, Hidvegi T, Sviben S, Fitzpatrick J, Sundaramoorthi H, et al.
Cell Mol Gastroenterol Hepatol
. 2024 Feb;
17(6):1007-1024.
PMID: 38336172
Background & Aims: In the classic form of α1-antitrypsin deficiency (ATD), the misfolded α1-antitrypsin Z (ATZ) variant accumulates in the endoplasmic reticulum (ER) of liver cells. A gain-of-function proteotoxic mechanism...
7.
Lee S, Oh Y, Victor M, Yang Y, Chen S, Strunilin I, et al.
Nat Aging
. 2023 Dec;
4(1):95-109.
PMID: 38066314
Aging is a common risk factor in neurodegenerative disorders. Investigating neuronal aging in an isogenic background stands to facilitate analysis of the interplay between neuronal aging and neurodegeneration. Here we...
8.
Marom R, Zhang B, Washington M, Song I, Burrage L, Rossi V, et al.
PLoS Genet
. 2023 Nov;
19(11):e1011005.
PMID: 37934770
Background: Kinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo,...
9.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco W, Grubbs J, Zhang B, et al.
Hum Mol Genet
. 2023 Aug;
32(21):3063-3077.
PMID: 37552066
Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling...
10.
Lee S, Oh Y, Victor M, Strunilin I, Chen S, Dahiya S, et al.
Res Sq
. 2023 May;
PMID: 37214956
Aging is a common risk factor in neurodegenerative disorders and the ability to investigate aging of neurons in an isogenic background would facilitate discovering the interplay between neuronal aging and...