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Page 1
Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.
JIMD Rep. 2023 Jan 5;64(2):167-179. doi: 10.1002/jmd2.12356. eCollection 2023 Mar.
JIMD Rep. 2023.
PMID: 36873094
Free PMC article.
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ, Scheben A, Siepel A, Kilberg MS.
Staklinski SJ, et al.
bioRxiv [Preprint]. 2023 Nov 2:2023.10.30.564808. doi: 10.1101/2023.10.30.564808.
bioRxiv. 2023.
PMID: 37961642
Free PMC article.
Preprint.
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Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
Staklinski SJ, Chang MC, Yu F, Collins Ruff K, Franz DN, Qian Z, Bloom LB, Merritt ME, McKenna R, Kilberg MS.
Staklinski SJ, et al.
J Biol Chem. 2022 Sep;298(9):102385. doi: 10.1016/j.jbc.2022.102385. Epub 2022 Aug 17.
J Biol Chem. 2022.
PMID: 35985424
Free PMC article.
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Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells.
Chang MC, Staklinski SJ, Malut VR, Pierre GL, Kilberg MS, Merritt ME.
Chang MC, et al. Among authors: staklinski sj.
Nutrients. 2023 Apr 18;15(8):1938. doi: 10.3390/nu15081938.
Nutrients. 2023.
PMID: 37111157
Free PMC article.
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Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
Staklinski SJ, Snanoudj S, Guerrot AM, Vanhulle C, Lecoquierre F, Bekri S, Kilberg MS.
Staklinski SJ, et al.
Int J Mol Sci. 2022 Dec 29;24(1):559. doi: 10.3390/ijms24010559.
Int J Mol Sci. 2022.
PMID: 36613999
Free PMC article.
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A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency.
Chang MC, Staklinski SJ, Merritt ME, Kilberg MS.
Chang MC, et al. Among authors: staklinski sj.
Biol Methods Protoc. 2023 Oct 25;8(1):bpad026. doi: 10.1093/biomethods/bpad026. eCollection 2023.
Biol Methods Protoc. 2023.
PMID: 37965492
Free PMC article.
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