By analyzing the effects genetic variants had on brain cells, they found the cause of a new rare condition—glutamine synthetase stabilization disorder—which causes seizures and delayed ...

Phase 3 EFZO-FIT™ study of efzofitimod in pulmonary sarcoidosis expected to complete enrollment in the second quarter of 2024 ...

The company’s lead product candidate is CABA-201, a fully human anti-CD19 binder for the treatment of Phase 1/2 clinical trials in dermatomyositis, anti-synthetase syndrome, immune-mediated ...

The company is developing ATYR0101, a fusion protein derived from a domain of aspartyl-tRNA synthetase that is in preclinical development for the treatment of fibrosis; and ATYR0750, a domain of ...

Crystallization and preliminary crystallographic analysis of bifunctional gamma-glutamylcysteine synthetase-glutathione synthetase from Streptococcus agalactiae. Acta Crystallogr Sect F Struct Biol ...

The poster demonstrated that the alanyl-tRNA synthetase fragment that forms ATYR0750 binds selectively to FGFR4 and induces ...

CSPD, carbamyl phosphate synthetase deficiency; HHH, hyperornithinemia hyperammonemia homocitrullinuria syndrome; IVA, isovalemic acidemia; LCHADD, long chain 3-chydroxy-acyl-CoA dehydrogenase ...

Ablauf der tRNA-Beladung Damit eine tRNA mit der entsprechenden Aminosäure (AS) beladen werden kann, muss die Aminoacyl-tRNA Synthetase die AS zuerst aktivieren. Dies geschieht durch Bildung einer ...

USA: A recent article describes a case of nutritionally driven acquired urea cycle disorder with carnitine deficiency leading ...

Jones et al, Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase, The American Journal of Human Genetics ...