Daphne E C Boer
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Explore the profile of Daphne E C Boer including associated specialties, affiliations and a list of published articles.
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10
Citations
168
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Recent Articles
1.
Bannink S, Bila K, van Weperen J, Ligthart N, Ferraz M, Boot R, et al.
J Lipid Res
. 2024 Oct;
65(11):100670.
PMID: 39395789
Gaucher disease (GD) is a lysosomal storage disorder (LSD) resulting from inherited glucocerebrosidase (GBA1) deficiency. GD diagnosis relies on GBA1 activity assays, typically employing 4-methylumbelliferyl-β-D-glucopyranoside (4MU-β-Glc) as fluorogenic substrate. However,...
2.
Blessing C, Apelt K, van den Heuvel D, Gonzalez-Leal C, Rother M, van der Woude M, et al.
Nat Commun
. 2022 Aug;
13(1):4762.
PMID: 35963869
Cells employ global genome nucleotide excision repair (GGR) to eliminate a broad spectrum of DNA lesions, including those induced by UV light. The lesion-recognition factor XPC initiates repair of helix-destabilizing...
3.
HI-NESS: a family of genetically encoded DNA labels based on a bacterial nucleoid-associated protein
Rashid F, Mahlandt E, van der Vaart M, Boer D, Varela Alvarez M, Henneman B, et al.
Nucleic Acids Res
. 2021 Nov;
50(2):e10.
PMID: 34734265
The interplay between three-dimensional chromosome organisation and genomic processes such as replication and transcription necessitates in vivo studies of chromosome dynamics. Fluorescent organic dyes are often used for chromosome labelling...
4.
van der Weegen Y, de Lint K, van den Heuvel D, Nakazawa Y, Mevissen T, van Schie J, et al.
Nat Cell Biol
. 2021 Jun;
23(6):595-607.
PMID: 34108663
Cells employ transcription-coupled repair (TCR) to eliminate transcription-blocking DNA lesions. DNA damage-induced binding of the TCR-specific repair factor CSB to RNA polymerase II (RNAPII) triggers RNAPII ubiquitylation of a single...
5.
van den Heuvel D, van der Weegen Y, Boer D, Ogi T, Luijsterburg M
Trends Cell Biol
. 2021 Mar;
31(5):359-371.
PMID: 33685798
DNA lesions pose a major obstacle during gene transcription by RNA polymerase II (RNAPII) enzymes. The transcription-coupled DNA repair (TCR) pathway eliminates such DNA lesions. Inherited defects in TCR cause...
6.
Boer D, Mirzaian M, Ferraz M, Nadaban A, Schreuder A, Hovnanian A, et al.
Clin Chim Acta
. 2020 Sep;
510:707-710.
PMID: 32946792
The existence of glucosylated cholesterol (GlcChol) in tissue has recently been recognized. GlcChol is generated from glucosylceramide (GlcCer) and cholesterol through transglucosylation by two retaining β-glucosidases, GBA and GBA2. Given...
7.
Boer D, van Smeden J, Bouwstra J, Aerts J
J Clin Med
. 2020 Mar;
9(3).
PMID: 32182893
Glucocerebrosidase (GCase) is a retaining β-glucosidase with acid pH optimum metabolizing the glycosphingolipid glucosylceramide (GlcCer) to ceramide and glucose. Inherited deficiency of GCase causes the lysosomal storage disorder named Gaucher...
8.
Boer D, van Smeden J, Al-Khakany H, Melnik E, van Dijk R, Absalah S, et al.
Biochim Biophys Acta Mol Cell Biol Lipids
. 2020 Feb;
1865(6):158673.
PMID: 32092464
Patients with Atopic Dermatitis (AD) suffer from inflamed skin and skin barrier defects. Proper formation of the outermost part of the skin, the stratum corneum (SC), is crucial for the...
9.
Aerts J, Kuo C, Lelieveld L, Boer D, van der Lienden M, Overkleeft H, et al.
Curr Opin Chem Biol
. 2019 Nov;
53:204-215.
PMID: 31783225
Glycosphingolipids are important building blocks of the outer leaflet of the cell membrane. They are continuously recycled, involving fragmentation inside lysosomes by glycosidases. Inherited defects in degradation cause lysosomal glycosphingolipid...
10.
van Smeden J, Dijkhoff I, Helder R, Al-Khakany H, Boer D, Schreuder A, et al.
J Lipid Res
. 2017 Oct;
58(12):2299-2309.
PMID: 29025868
Epidermal β-glucocerebrosidase (GBA1), an acid β-glucosidase normally located in lysosomes, converts (glucosyl)ceramides into ceramides, which is crucial to generate an optimal barrier function of the outermost skin layer, the stratum...