| |  Online-Ressource |
|---|
| Verfasst von: | Mendes, Marisa I. [VerfasserIn]  |
|---|
| | Wolf, Nicole I [VerfasserIn] |
|---|
| | Rudinger-Thirion, Joëlle [VerfasserIn] |
|---|
| | Lenz, Dominic [VerfasserIn] |
|---|
| | Frugier, Magali [VerfasserIn] |
|---|
| | Verloo, Patrick [VerfasserIn] |
|---|
| | Mandel, Hanna [VerfasserIn] |
|---|
| | Manor, Joshua [VerfasserIn] |
|---|
| | Kassel, Rachel [VerfasserIn] |
|---|
| | Corpeleijn, Willemijn E [VerfasserIn] |
|---|
| | van der Rijt, Sanne [VerfasserIn] |
|---|
| | Schroor, Elsbeth M [VerfasserIn] |
|---|
| | van Dooren, Silvy J M [VerfasserIn] |
|---|
| | Staufner, Christian [VerfasserIn] |
|---|
| | Salomons, Gajja S [VerfasserIn] |
|---|
| | Smith, Desirée E C [VerfasserIn] |
|---|
| Titel: | Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS |
|---|
| Verf.angabe: | Marisa I. Mendes, Nicole I. Wolf, Joëlle Rudinger-Thirion, Dominic Lenz, Magali Frugier, Patrick Verloo, Hanna Mandel, Joshua Manor, Rachel Kassel, Willemijn E. Corpeleijn, Sanne van der Rijt, Elsbeth M. Schroor, Silvy J.M. van Dooren, Christian Staufner, Gajja S. Salomons and Desirée E.C. Smith |
|---|
| E-Jahr: | 2024 |
|---|
| Jahr: | 11 December 2024 |
|---|
| Umfang: | 11 S. |
|---|
| Illustrationen: | Illustrationen |
|---|
| Fussnoten: | Gesehen am 07.07.2025 |
|---|
| Titel Quelle: | Enthalten in: Nucleic acids research |
|---|
| Ort Quelle: | Oxford : Oxford Univ. Press, 1974 |
|---|
| Jahr Quelle: | 2024 |
|---|
| Band/Heft Quelle: | 52(2024), 22 vom: Dez., Artikel-ID e107, Seite 1-11 |
|---|
| ISSN Quelle: | 1362-4962 |
|---|
| Abstract: | 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 to certain aaRSs defects, partly overlapping between the different aaRSs defects. Diagnosis relies mostly on genetics and remains challenging, often requiring functional validation of new ARS variants. In this study, we present the development and validation of a method to simultaneously determine aminoacylation activities of all cytosolic aaRSs (encoded by ARS1 genes) in one single cell lysate, improving diagnosis in suspected ARS1 disorders and facilitating functional characterization of ARS1 variants of unknown significance. As proof of concept, we show enzyme activities of five individuals with variants in different ARS1 genes, demonstrating the usability and convenience of the presented method. |
|---|
| DOI: | doi:10.1093/nar/gkae1134 |
|---|
| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1093/nar/gkae1134 |
|---|
| | DOI: https://doi.org/10.1093/nar/gkae1134 |
|---|
| Datenträger: | Online-Ressource |
|---|
| Sprache: | eng |
|---|
| K10plus-PPN: | 1929854706 |
|---|
| Verknüpfungen: | → Zeitschrift |
|---|
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS / Mendes, Marisa I. [VerfasserIn]; 11 December 2024 (Online-Ressource)
