Paul C Marcogliese
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Explore the profile of Paul C Marcogliese including associated specialties, affiliations and a list of published articles.
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32
Citations
730
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Recent Articles
1.
Aceves-Ewing N, Lanza D, Marcogliese P, Lu D, Hsu C, Gonzalez M, et al.
medRxiv
. 2024 Dec;
PMID: 39677486
Heterozygous pathogenic variants in are associated with oligodontia-colorectal cancer syndrome (ODCRCS), a disorder characterized by oligodontia, colorectal cancer, and in some cases, sparse hair and eyebrows. We have identified four...
2.
Liao J, Chung H, Shih C, Wong K, Dutta D, Nil Z, et al.
Nat Commun
. 2024 Apr;
15(1):3326.
PMID: 38637532
Cdk8 in Drosophila is the orthologue of vertebrate CDK8 and CDK19. These proteins have been shown to modulate transcriptional control by RNA polymerase II. We found that neuronal loss of...
3.
Her Y, Pascual D, Goldstone-Joubert Z, Marcogliese P
Genome
. 2024 Feb;
67(6):158-167.
PMID: 38412472
The last decade has been highlighted by the increased use of next-generation DNA sequencing technology to identify novel human disease genes. A critical downstream part of this process is assigning...
4.
Dutta D, Kanca O, Shridharan R, Marcogliese P, Steger B, Morimoto M, et al.
Proc Natl Acad Sci U S A
. 2024 Feb;
121(9):e2322582121.
PMID: 38381787
Nascent proteins destined for the cell membrane and the secretory pathway are targeted to the endoplasmic reticulum (ER) either posttranslationally or cotranslationally. The signal-independent pathway, containing the protein TMEM208, is...
5.
Dutta D, Kanca O, Byeon S, Marcogliese P, Zuo Z, Shridharan R, et al.
Nat Metab
. 2023 Aug;
5(9):1595-1614.
PMID: 37653044
In most eukaryotic cells, fatty acid synthesis (FAS) occurs in the cytoplasm and in mitochondria. However, the relative contribution of mitochondrial FAS (mtFAS) to the cellular lipidome is not well...
6.
Sinha Ray S, Dutta D, Dennys C, Powers S, Roussel F, Lisowski P, et al.
Cell Rep
. 2022 Dec;
41(10):111751.
PMID: 36476864
The recently discovered neurological disorder NEDAMSS is caused by heterozygous truncations in the transcriptional regulator IRF2BPL. Here, we reprogram patient skin fibroblasts to astrocytes and neurons to study mechanisms of...
7.
Blok L, Verseput J, Rots D, Venselaar H, Innes A, Stumpel C, et al.
HGG Adv
. 2022 Nov;
4(1):100157.
PMID: 36408368
WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect...
8.
Marcogliese P, Deal S, Andrews J, Harnish J, Bhavana V, Graves H, et al.
Cell Rep
. 2022 Mar;
38(11):110517.
PMID: 35294868
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in...
9.
Lu S, Hernan R, Marcogliese P, Huang Y, Gertler T, Akcaboy M, et al.
Am J Hum Genet
. 2022 Mar;
109(4):571-586.
PMID: 35240055
TIAM Rac1-associated GEF 1 (TIAM1) regulates RAC1 signaling pathways that affect the control of neuronal morphogenesis and neurite outgrowth by modulating the actin cytoskeletal network. To date, TIAM1 has not...
10.
Chung H, Rump P, Lu D, Glassford M, Mok J, Fatih J, et al.
Hum Mol Genet
. 2022 Mar;
31(19):3231-3244.
PMID: 35234901
Background: The endoplasmic reticulum (ER)-membrane protein complex (EMC) is a multi-protein transmembrane complex composed of 10 subunits that functions as a membrane-protein chaperone. Variants in EMC1 lead to neurodevelopmental delay...