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Conservation and Diversification of tRNA t6A-Modifying Enzymes across the Three Domains of Life.
Su C, Jin M, Zhang W. Su C, et al. Int J Mol Sci. 2022 Nov 6;23(21):13600. doi: 10.3390/ijms232113600. Int J Mol Sci. 2022. PMID: 36362385 Free PMC article. Review.
Enzymatically, TsaC/Sua5 protein utilizes the substrates of L-threonine, HCO(3)(-)/CO(2) and ATP to synthesize an intermediate L-threonylcarbamoyladenylate, of which the threonylcarbamoyl-moiety is subsequently transferred onto the A37 of substrate tRNAs by the TsaD-TsaB - …
Enzymatically, TsaC/Sua5 protein utilizes the substrates of L-threonine, HCO(3)(-)/CO(2) and ATP to synthesize an intermediate L-thre …
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.
Pezzella M, Yeghiazaryan NS, Veggiotti P, Bettinelli A, Giudizioso G, Zara F, Striano P, Minetti C. Pezzella M, et al. Seizure. 2010 Mar;19(2):132-5. doi: 10.1016/j.seizure.2009.12.002. Epub 2010 Jan 18. Seizure. 2010. PMID: 20083416 Free article. Review.
Galloway-Mowat Syndrome (GMS) is an autosomal recessively inherited condition which manifests with severe encephalopathy, featuring microcephaly, developmental delay, and early-onset intractable epilepsy. ...The other patient developed only isolated proteinur …
Galloway-Mowat Syndrome (GMS) is an autosomal recessively inherited condition which manifests with severe encephalopath …
Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.
Cooperstone BG, Friedman A, Kaplan BS. Cooperstone BG, et al. Am J Med Genet. 1993 Aug 15;47(2):250-4. doi: 10.1002/ajmg.1320470221. Am J Med Genet. 1993. PMID: 8213914 Review.
Additional abnormalities may include seizures, minor facial anomalies, and hiatal hernia. Onset of proteinuria often occurs in the first 3 months of life, but always before age 3 years. A uniform pattern of renal histologic changes has not been found. ...
Additional abnormalities may include seizures, minor facial anomalies, and hiatal hernia. Onset of proteinuria often occurs in the first …