Desiree E C Smith
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Explore the profile of Desiree E C Smith including associated specialties, affiliations and a list of published articles.
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46
Citations
639
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Recent Articles
1.
Del Greco C, Kuo M, Smith D, Mendes M, Salamons G, Nemcovic M, et al.
Mol Genet Genomic Med
. 2025 Feb;
13(2):e70078.
PMID: 39963003
Background: Mutations in cysteinyl-tRNA synthetase (CARS1) have been implicated in a multisystem disease including microcephaly, developmental delay, and brittle hair and nail phenotypes. Methods: Here, we present a patient with...
2.
Kok G, Schene I, Ilcken E, Alcaraz P, Mendes M, Smith D, et al.
Nucleic Acids Res
. 2024 Dec;
53(1.
PMID: 39657787
Aminoacyl-tRNA synthetases (ARSs) couple tRNAs with their corresponding amino acids. While ARSs can bind structurally similar amino acids, extreme specificity is ensured by subsequent editing activity. Yet, we found that...
3.
Mendes M, Wolf N, Rudinger-Thirion J, Lenz D, Frugier M, Verloo P, et al.
Nucleic Acids Res
. 2024 Nov;
52(22):e107.
PMID: 39574415
In recent years, pathogenic variants in ARS genes, encoding aminoacyl-tRNA synthetases (aaRSs), have been associated with human disease. Patients harbouring pathogenic variants in ARS genes have clinical signs partly unique...
4.
den Bakker E, Smith D, Finken M, Wamelink M, Salomons G, van de Kamp J, et al.
Essays Biochem
. 2024 Apr;
68(4):391-399.
PMID: 38639060
Sulfate is an important anion as sulfonation is essential in modulation of several compounds, such as exogens, polysaccharide chains of proteoglycans, cholesterol or cholesterol derivatives and tyrosine residues of several...
5.
Liepina L, Smith D, Huidekoper H, Zeidler S, Wamelink M, de Wit M, et al.
JIMD Rep
. 2024 Mar;
65(2):49-55.
PMID: 38444578
Two siblings, presenting with a neurometabolic phenotype, were identified with 5, 10-methenyltetrahydrofolate synthetase (MTHFS) deficiency. Whole genome sequencing in both patients demonstrated an homozygous variant NM_006441.3():c.434G > A, p.Arg145Gin, which...
6.
van de Kamp J, Bokenkamp A, Smith D, Wamelink M, Jansen E, Struys E, et al.
Clin Genet
. 2022 Sep;
103(1):45-52.
PMID: 36175384
Sulfate is the fourth most abundant anion in human plasma but is not measured in clinical practice and little is known about the consequences of sulfate deficiency. Nevertheless, sulfation plays...
7.
Kuijpers T, de Vries A, van Leeuwen E, Ermens A, de Pont S, Smith D, et al.
Blood Adv
. 2022 Aug;
6(22):5829-5834.
PMID: 35977078
No abstract available.
8.
Bogershausen N, Krawczyk H, Jamra R, Lin S, Yigit G, Huning I, et al.
Hum Mutat
. 2022 Jul;
43(10):1454-1471.
PMID: 35790048
Aminoacylation of transfer RNA (tRNA) is a key step in protein biosynthesis, carried out by highly specific aminoacyl-tRNA synthetases (ARSs). ARSs have been implicated in autosomal dominant and autosomal recessive...
9.
Ravel J, Dreumont N, Mosca P, Smith D, Mendes M, Wiedemann A, et al.
Hum Mutat
. 2021 Sep;
42(12):1576-1583.
PMID: 34570399
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors...
10.
Helman G, Mendes M, Nicita F, Darbelli L, Sherbini O, Moore T, et al.
Genet Med
. 2021 Aug;
23(12):2352-2359.
PMID: 34446925
Purpose: Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic variability in individuals...