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
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3856
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Recent Articles
11.
Oh Y, Lee S, Kim W, Chen S, Church V, Cates K, et al.
Nat Neurosci
. 2022 Oct;
25(11):1420-1433.
PMID: 36303071
Huntington's disease (HD) is an inherited neurodegenerative disorder with adult-onset clinical symptoms, but the mechanism by which aging drives the onset of neurodegeneration in patients with HD remains unclear. In...
12.
Fielder S, Rosenfeld J, Burrage L, Emrick L, Lalani S, Attali R, et al.
Mol Genet Metab
. 2022 Apr;
136(1):65-73.
PMID: 35361529
We describe a proband evaluated through the Undiagnosed Diseases Network (UDN) who presented with microcephaly, developmental delay, and refractory epilepsy with a de novo p.Ala47Thr missense variant in the protein...
13.
Rudnick D, Huang J, Hidvegi T, Chu A, Hale P, Munanairi A, et al.
Gastroenterology
. 2022 Mar;
163(1):270-284.
PMID: 35301011
Background & Aims: Insulin signaling is known to regulate essential proteostasis mechanisms. Methods: The analyses here examined effects of insulin signaling in the PiZ mouse model of α1-antitrypsin deficiency in...
14.
Huang H, Pan J, Spielberg D, Hanchard N, Scott D, Burrage L, et al.
Proc Natl Acad Sci U S A
. 2022 Feb;
119(6).
PMID: 35121658
Pathogenic variants in surfactant proteins SP-B and SP-C cause surfactant deficiency and interstitial lung disease. Surfactant proteins are synthesized as precursors (proSP-B, proSP-C), trafficked, and processed via a vesicular-regulated secretion...
15.
Wang S, Luke C, Pak S, Shi V, Chen L, Moore J, et al.
Commun Biol
. 2022 Jan;
5(1):46.
PMID: 35022555
The endogenous lysosomal cysteine protease inhibitor SERPINB3 (squamous cell carcinoma antigen 1, SCCA1) is elevated in patients with cervical cancer and other malignancies. High serum SERPINB3 is prognostic for recurrence...
16.
Luke C, Markovina S, Good M, Wight I, Thomas B, Linneman J, et al.
Commun Biol
. 2022 Jan;
5(1):47.
PMID: 35022507
Lysosomal membrane permeabilization (LMP) and cathepsin release typifies lysosome-dependent cell death (LDCD). However, LMP occurs in most regulated cell death programs suggesting LDCD is not an independent cell death pathway,...
17.
Boulin T, Itani O, El Mouridi S, Leclercq-Blondel A, Gendrel M, Macnamara E, et al.
Mol Genet Metab
. 2021 Aug;
134(1-2):195-202.
PMID: 34412939
Neurobeachin (NBEA) was initially identified as a candidate gene for autism. Recently, variants in NBEA have been associated with neurodevelopmental delay and childhood epilepsy. Here, we report on a novel...
18.
Baldridge D, Wangler M, Bowman A, Yamamoto S, Schedl T, Pak S, et al.
Orphanet J Rare Dis
. 2021 May;
16(1):206.
PMID: 33962631
Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and diseases,...
19.
Mechanisms of Action of Autophagy Modulators Dissected by Quantitative Systems Pharmacology Analysis
Shi Q, Pei F, Silverman G, Pak S, Perlmutter D, Liu B, et al.
Int J Mol Sci
. 2020 Apr;
21(8).
PMID: 32325894
Autophagy plays an essential role in cell survival/death and functioning. Modulation of autophagy has been recognized as a promising therapeutic strategy against diseases/disorders associated with uncontrolled growth or accumulation of...
20.
Thomas B, Wight I, Chou W, Moreno M, Dawson Z, Homayouni A, et al.
PLoS One
. 2019 Mar;
14(3):e0214257.
PMID: 30913273
Due to its ease of genetic manipulation and transparency, Caenorhabditis elegans (C. elegans) has become a preferred model system to study gene function by microscopy. The use of Aequorea victoria...