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
11.
Kok G, Tseng L, Schene I, Dijsselhof M, Salomons G, Mendes M, et al.
Genet Med
. 2021 Jul;
23(11):2202-2207.
PMID: 34194004
Purpose: Recessive cytosolic aminoacyl-tRNA synthetase (ARS) deficiencies are severe multiorgan diseases, with limited treatment options. By loading transfer RNAs (tRNAs) with their cognate amino acids, ARS are essential for protein...
12.
Botta E, Theil A, Raams A, Caligiuri G, Giachetti S, Bione S, et al.
Hum Mol Genet
. 2021 Apr;
30(18):1711-1720.
PMID: 33909043
Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by sulfur-deficient brittle hair and nails and scaly skin, but with otherwise remarkably variable clinical features. The photosensitive TTD (PS-TTD) forms...
13.
Schuch L, Forstner M, Rapp C, Li Y, Smith D, Mendes M, et al.
Clin Genet
. 2021 Feb;
99(6):789-801.
PMID: 33598926
Aminoacyl-tRNA synthetases (ARSs) catalyze the first step of protein biosynthesis (canonical function) and have additional (non-canonical) functions outside of translation. Bi-allelic pathogenic variants in genes encoding ARSs are associated with...
14.
Wang L, Li Z, Sievert D, Smith D, Mendes M, Chen D, et al.
Nat Commun
. 2021 Feb;
12(1):1192.
PMID: 33589599
No abstract available.
15.
Tabolacci E, Molinario C, Marangi G, Nobile V, Arena V, Mendes M, et al.
Clin Genet
. 2020 Dec;
99(4):601-603.
PMID: 33314043
No abstract available.
16.
Marten L, Brinkert F, Smith D, Prokisch H, Hempel M, Santer R
Mol Genet Metab Rep
. 2020 Dec;
25:100681.
PMID: 33294374
AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and...
17.
Lenz D, Stahl M, Seidl E, Schondorf D, Brennenstuhl H, Gesenhues F, et al.
Pediatr Pulmonol
. 2020 Aug;
55(11):3057-3066.
PMID: 32833345
Background: Pulmonary alveolar proteinosis (PAP) is a heterogeneous condition with more than 100 different underlying disorders that need to be differentiated to target therapeutic options, which are generally limited. Methods:...
18.
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Wang L, Li Z, Sievert D, Smith D, Mendes M, Chen D, et al.
Nat Commun
. 2020 Aug;
11(1):4038.
PMID: 32788587
Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed cytoplasmic Class IIa family of tRNA synthetases required for protein translation. Here, we identify biallelic missense and frameshift mutations in...
19.
Manole A, Efthymiou S, OConnor E, Mendes M, Jennings M, Maroofian R, et al.
Am J Hum Genet
. 2020 Aug;
107(2):311-324.
PMID: 32738225
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families,...
20.
Lenz D, Smith D, Crushell E, Husain R, Salomons G, Alhaddad B, et al.
Genet Med
. 2020 Jul;
22(11):1863-1873.
PMID: 32699352
Purpose: Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of...