Sarah D P Wilhelm
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Explore the profile of Sarah D P Wilhelm including associated specialties, affiliations and a list of published articles.
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5
Citations
20
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Recent Articles
1.
Wilhelm S, Kakadia J, Beharry A, Kenana R, Hoffman K, ODonoghue P, et al.
Nucleic Acids Res
. 2024 Nov;
52(22):14043-14060.
PMID: 39530218
Aminoacyl-tRNA synthetases are indispensable enzymes in all cells, ensuring the correct pairing of amino acids to their cognate tRNAs to maintain translation fidelity. Autosomal dominant mutations V133F and Y330C in...
2.
Wilhelm S, Moresco A, Rivero A, Siu V, Heinemann I
IUBMB Life
. 2024 Oct;
76(12):1125-1138.
PMID: 39352000
Heterozygous pathogenic variants in the histidyl-tRNA synthetase (HARS) gene are associated with Charcot-Marie-Tooth (CMT) type 2W disease, classified as an axonal peripheral neuropathy. To date, at least 60 variants causing...
3.
Ward C, Beharry A, Tennakoon R, Rozik P, Wilhelm S, Heinemann I, et al.
Chem Rev
. 2024 May;
124(12):7976-8008.
PMID: 38801719
Transfer ribonucleic acid (tRNA) therapeutics will provide personalized and mutation specific medicines to treat human genetic diseases for which no cures currently exist. The tRNAs are a family of adaptor...
4.
Wilhelm S, Kenana R, Qiu Y, ODonoghue P, Heinemann I
Genes (Basel)
. 2023 Feb;
14(2).
PMID: 36833180
Histidyl-tRNA synthetase (HARS) ligates histidine to its cognate transfer RNA (tRNA). Mutations in HARS cause the human genetic disorders Usher syndrome type 3B (USH3B) and Charcot-Marie-Tooth syndrome type 2W (CMT2W)....
5.
Qiu Y, Kenana R, Beharry A, Wilhelm S, Hsu S, Siu V, et al.
Hum Mol Genet
. 2022 Sep;
32(5):810-824.
PMID: 36164730
Aminoacyl-tRNA synthetases are essential enzymes responsible for charging amino acids onto cognate tRNAs during protein synthesis. In histidyl-tRNA synthetase (HARS), autosomal dominant mutations V133F, V155G, Y330C and S356N in the...