Anthony Antonellis
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Explore the profile of Anthony Antonellis including associated specialties, affiliations and a list of published articles.
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79
Citations
2838
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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.
Kuo M, Parish M, Jonatzke K, Antonellis A
bioRxiv
. 2024 Jul;
PMID: 38979321
Alanyl-tRNA synthetase 1 () encodes the enzyme that ligates tRNA molecules to alanine in the cytoplasm, which is required for protein translation. Variants in have been implicated in early-onset, multi-system...
3.
Meyer-Schuman R, Cale A, Pierluissi J, Jonatzke K, Park Y, Lenk G, et al.
HGG Adv
. 2024 Jul;
5(3):100324.
PMID: 38956874
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that complete the first step of protein translation: ligation of amino acids to cognate tRNAs. Genes encoding ARSs have been implicated in...
4.
Theuriet J, Marte S, Isapof A, de Becdelievre A, Konyukh M, Laureano-Figueroa S, et al.
J Peripher Nerv Syst
. 2024 May;
29(2):275-278.
PMID: 38769024
Background And Aims: Pathogenic variants in the NARS1 gene, which encodes for the asparaginyl-tRNA synthetase1 (NARS1) enzyme, were associated with complex central and peripheral nervous system phenotypes. Recently, Charcot-Marie-Tooth (CMT)...
5.
Meyer-Schuman R, Cale A, Pierluissi J, Jonatzke K, Park Y, Lenk G, et al.
bioRxiv
. 2024 Apr;
PMID: 38585737
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that complete the first step of protein translation: ligation of amino acids to cognate tRNAs. Genes encoding ARSs have been implicated in...
6.
Beijer D, Marte S, Li J, De Ridder W, Chen J, Tadenev A, et al.
Brain Commun
. 2024 Mar;
6(2):fcae070.
PMID: 38495304
Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic...
7.
Meyer-Schuman R, Marte S, Smith T, Feely S, Kennerson M, Nicholson G, et al.
Hum Mol Genet
. 2023 Apr;
32(13):2177-2191.
PMID: 37010095
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes that ligate tRNA molecules to cognate amino acids. Heterozygosity for missense variants or small in-frame deletions in six ARS genes causes dominant axonal peripheral...
8.
Del Greco C, Antonellis A
Genes (Basel)
. 2022 Dec;
13(12).
PMID: 36553587
Aminoacyl-tRNA synthetases (ARSs) are highly conserved essential enzymes that charge tRNA with cognate amino acids-the first step of protein synthesis. Of the 37 nuclear-encoded human ARS genes, 17 encode enzymes...
9.
Forrest M, Meyer A, Laureano Figueroa S, Antonellis A
Cold Spring Harb Mol Case Stud
. 2022 Oct;
8(7).
PMID: 36307205
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes with a critical role in protein synthesis: charging tRNA molecules with cognate amino acids. Heterozygosity for variants in five genes (, , , ,...
10.
Meyer A, Forrest M, Nicolau S, Wiszniewski W, Bland M, Tsao C, et al.
Hum Mutat
. 2022 Mar;
43(7):869-876.
PMID: 35332613
Heterozygosity for missense variants and small in-frame deletions in GARS1 has been reported in patients with a range of genetic neuropathies including Charcot-Marie-Tooth disease type 2D (CMT2D), distal hereditary motor...