The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
Abstract
Viruses and Congenital Disorders: Mutations in genes involved in α-dystroglycan O-linked glycosylation result in posttranslation modifications associated with the congenital disease Walker-Warburg syndrome (WWS). This cellular modification is also required for efficient Lassa virus infection of cells. Jae et al. (p. 479 , published online 21 March) screened for genes involved in O-glycosylation that affected Lassa virus infection and identified candidates involved in glycosylation. Individuals from different pedigrees exhibiting WWS had unique mutations among genes identified in the genetic screen. Thus, comprehensive forward genetic screens can be used to define the genetic architecture of a complex disease.
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The strongest negative regulator of SQLE-mNeon found in the screen was the E3 ubiquitin ligase MARCH6 and its cognate E2 partner UBE2J2.
“Conversely, the strongest negative regulator of SQLE-mNeon found in our screen was the E3 ubiquitin ligase MARCH6, and its cognate E2 partner UBE2J2, which we have recently reported to be critical determinants of cholesterol-dependent degradation of SQLE25–27.”
From Haploid genetic screens identify SPRING/C12ORF49 as a determinant of SREBP signaling and cholesterol metabolism (2020) · cites this paper as [27]
The paper’s main-text account of its haploid screen identifies factors involved in Lassa virus entry and dystroglycan glycosylation, not regulators of SQLE-mNeon. Searches for MARCH6, UBE2J2, SQLE-mNeon, and cholesterol-dependent SQLE degradation found no passage addressing the claim. (LLM, conf=0.78)
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Metadata
- Authors
- Jae, L. T., Raaben, M., Riemersma, M., van Beusekom, E., Blomen, V. A., Velds, A., Kerkhoven, R. M., Carette, J. E., Topaloglu, H., Meinecke, P., Wessels, M. W., Lefeber, D. J., Whelan, S. P., van Bokhoven, H., & Brummelkamp, T. R.
- Venue
- Science
- Published
- 2013-04-26
- Volume
- 340
- Issue
- 6131
- Pages
- 479-483
- ISSN
- 0036-8075
- 1095-9203
- PMC
- PMC3919138
- Cited by
- 272
- References
- 1
- Language
- en
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