Pathogenic variants in GatCAB subunits lead to a lethal metabolic cardiomyopathy.aMitochondrial-tRNAGlnis charged with glutamine in a two-step reaction.b–fPedigrees of the families with pathogenic variants inQRSL1,GATB, orGATCas identified in the patients.g–lPathology of patients' heart tissues.g...
significantlydecreasedbysodiumazideandGly-Pro,anATPsynthesisinhibitorandapeptidetransporter1(PepT1)substrate, respectively,suggestingthattransportofQIGLFwasnotenergy-dependentandcarrier-mediated.Inaddition,wortmannin,a transcytosisinhibitor,hadlittleeffectonthetransport,suggestingthatendocytosiswasnotinvolvedinthetran...
Inhibition of the acidosis-sensing L-Gln transporter SNAT2 impairs proliferation of LBRM-TG6 mouse T-lymphocytesELSEVIERJournal of Renal Nutrition
The ABCA3 c.838C>T (p.Arg280Cys, R280C) variant alters an arginine residue to cysteine at position 280 of the ABCA3 protein, which is critical for its function as a lipid transporter in the lamellar bodies of alveolar type II cells. This variant is classified as a missense mutation, ...
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Transcription of Ena1, a gene encoding a lithium and sodium ion transporter essential for salt toler- ance in yeast, is controlled by the TOR signaling pathway. Ena1 expressionis strongly induced under TOR-inactivating conditions and the absence of the TOR-controlled GATA transcription factors Gln...
(2011). Comprehensive identification of protein substrates of the Dot/ Icm type IV transporter of Legionella pneumophila. PLoS ONE 6, e17638.Yu, C., Mao, H., Novitsky, E.J., Tang, X., Rychnovsky, S.D., Zheng, N., and Huang, L. (2015). Gln40 deamidation blocks structural ...
The key anabolic L-Gln transporter SNAT2 is acutely inhibited by glucocorticoid stress in L6 skeletal muscle cellsdoi:10.1053/j.jrn.2008.03.112MitchelRobert L.ELSEVIERJournal of Renal Nutrition