Article
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Annals of clinical and translational neurology - 1 May 2023
Tayebi Naeimeh, Leon-Ricardo Brian, McCall Kevin, Mehinovic Elvisa, Engelstad Kristin, Huynh Vincent, Turner Tychele N, Weisenberg Judy, Thio Liu L, Hruz Paul, Williams Robin S B, De Vivo Darryl C, Petit Vincent, Haller Gabe, Gurnett Christina A
Abstract excerpt
OBJECTIVE: The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. METHODS: The functional impact of 40 SNVs in SLC2A1 was quantitatively determined in HAP1 cells in which SLC2A1 is required for growth. Donor libraries were introduced into the endogenous SLC2A1 gene in HAP1-Lig4KO...
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