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24 Possible Causes for L phenylalanyl tRNA, activity, synthetase

  • Tyrosinemia Type 3

    COMMENT: Transfusion with red blood cells may cause GALT enzyme activity to appear falsely normal.[slh.wisc.edu] (Tyr) L-Tyrosyl- tRNA(Tyr) tRNA(Phe) L- Phenylalanyl- tRNA(Phe) Catecholamine Biosynthesis Tyrosine Metabolism Citric Acid Cycle Intracellular Space Extracellular Space Liver[smpdb.ca] […] subunit alpha 19 25,969,255 25,978,777 RGD:10402751 G Farsb phenylalanyl-tRNA synthetase subunit beta 9 84,324,456 84,383,674 RGD:10402751 G Got1 glutamic-oxaloacetic transaminase[rgd.mcw.edu]

  • Mitochondrial Myopathy

    Long sinus pauses were documented, and an atrial pacemaker with an active-fixation lead was implanted.[ncbi.nlm.nih.gov] Elo JM, Yadavalli SS, Euro L, et al. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.[jamanetwork.com] BACKGROUND: Mutations in the mitochondrial tyrosyl-tRNA synthetase (YARS2) gene have previously been identified as a cause of the tissue specific mitochondrial respiratory[ncbi.nlm.nih.gov]

  • Lactobacillus Bulgaricus

    This study investigated whether there are specific lactic acid bacterial strains that can activate the AhR pathway, and if so, whether this AhR-activating potential is associated[ncbi.nlm.nih.gov] […] ligase ( murE ), phenylalanyl-tRNA synthetase subunit alpha ( pheS ), recombinase A ( recA ), and DNA-directed RNA polymerase subunit beta ( rpoB ).[nature.com] Lactobacillus bulgaricus asparagine synthetase and asparaginyl-tRNA synthetase: coregulation by transcription antitermination. J. Bacteriol. 178: 2459-2461, 1996.[lgcstandards-atcc.org]

  • Lactic Acidosis

    Highly active antiretroviral therapy was discontinued. The patient's lactate level decreased about 2 weeks after discharge.[nature.com] L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A: Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile[hmdb.ca] Abstract Mitochondrial aminoacyl tRNA synthetases are essential for organelle protein synthesis.[ncbi.nlm.nih.gov]

  • Lethal Infantile Mitochondrial Myopathy

    Written by more than 55 specialists who are actively involved in the care of sick newborns, it serves as an authoritative reference for practitioners, a valuable preparation[books.google.com] . , Euro, L. , Isohanni, P. , Gotz, A. , Carroll, C. J. et al . Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy .[doi.org] To ascertain whether cybrid cells contained fully assembled and active complex I, complex I activity and other respiratory chain complex activities were assayed in mitochondria-enriched[jci.org]

  • Mitochondrial Myopathy and Sideroblastic Anemia

    […] biopsy performed in both siblings proved the presence of a significant number of ragged-red fibers, and respiratory chain enzymatic determinations demonstrated a reduced activity[miami.pure.elsevier.com] phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.[ojrd.biomedcentral.com] […] synthetase 13q34 AR Myoclonic epilepsy [xlix] DARS2 611105 aspartyl-tRNA synthetase 1q25.1 AR Leukoencephalopathy and lactic acidosis [l] EARS2 612799 Glutamyl tRNA synthetase[mitomap.org]

  • Autosomal Dominant Mental Retardation 21

    Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3.[genecards.org] […] synthetase 13q34 AR Myoclonic epilepsy [xlix] DARS2 611105 aspartyl-tRNA synthetase 1q25.1 AR Leukoencephalopathy and lactic acidosis [l] EARS2 612799 Glutamyl tRNA synthetase[mitomap.org] Structure and activity of the fourth member, NDST4. The Journal of Biological Chemistry 276 (8): 5876–5882.[els.net]

  • Autosomal Recessive Sideroblastic Anemia

    The deficiency of the Fe/S cluster leads to the activation of the IRP1 protein that blocks the synthesis of the ALAS2 protein, the first enzyme in the synthesis of the heme[bloodgenetics.com] […] synthetase 13q34 AR Myoclonic epilepsy [xlix] DARS2 611105 aspartyl-tRNA synthetase 1q25.1 AR Leukoencephalopathy and lactic acidosis [l] EARS2 612799 Glutamyl tRNA synthetase[mitomap.org] […] sideroblastic anemia, autosomal recessive Turnaround time Complete analysis & Targeted analysis: 4 weeks Performing laboratory Radboudumc GSS - hemolytic anemia due to glutathione synthetase[order.radboudumc.nl]

  • Alpers Syndrome

    The activity of mtDNA polymerase gamma was undetectable.[ncbi.nlm.nih.gov] Elo JM , Yadavalli SS , Euro L et al . Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy .[nature.com] These mutations result in a tissue specific depletion of the mtDNA which correlates with the OXPHOS-activities.[ncbi.nlm.nih.gov]

  • TMEM70-Related Mitochondrial Encephalo-Cardio-Myopathy

    […] assay - Complex II activity assay - DCXR monoclonal antibody[mitosciences.com] […] synthetase 13q34 AR Myoclonic epilepsy [xlix] DARS2 611105 aspartyl-tRNA synthetase 1q25.1 AR Leukoencephalopathy and lactic acidosis [l] EARS2 612799 Glutamyl tRNA synthetase[mitomap.org] The structure of alanyl-tRNA synthetase with editing domain . Proc Natl Acad Sci U S A 2009 ; 106 : 11028 – 11033 . 49.[cambridge.org]