Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification

por Staklinski, Stephen J., Scheben, Armin, Siepel, Adam, Kilberg, Michael S.
Publicado 2023

A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency

por Chang, Mario C, Staklinski, Stephen J, Merritt, Matthew E, Kilberg, Michael S
Publicado 2023

Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency

por Staklinski, Stephen J., Snanoudj, Sarah, Guerrot, Anne-Marie, Vanhulle, Catherine, Lecoquierre, François, Bekri, Soumeya, Kilberg, Michael S.
Publicado 2022

Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells

por Chang, Mario C., Staklinski, Stephen J., Malut, Vinay R., Pierre, Geraldine L., Kilberg, Michael S., Merritt, Matthew E.
Publicado 2023

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines

por Staklinski, Stephen J., Chang, Mario C., Ahrens‐Nicklas, Rebecca C., Kaur, Shagun, Stefanatos, Arianna K., Dudenhausen, Elizabeth E., Merritt, Matthew E., Kilberg, Michael S.
Publicado 2023

Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency

por Staklinski, Stephen J., Chang, Mario C., Yu, Fang, Collins Ruff, Kathleen, Franz, David N., Qian, Zhijian, Bloom, Linda B., Merritt, Matthew E., McKenna, Robert, Kilberg, Michael S.
Publicado 2022