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55 Possible Causes for activity, arginyl tRNA, synthetase

  • Pelizaeus-Merzbacher Disease

    Activation of the innate immune system, and more particularly, of microglia and astrocytes, is mostly associated with the deleterious role of neuroinflammation.[] Whole-exome sequencing in two siblings presenting with clinical symptoms of PMD revealed a homozygous variant in the arginyl-tRNA synthetase (RARS) gene: NM_002887.3: c.[5A[] .); family activity (55.6 vs 89.7, 1 S.D.); and parental time impact (66.2 vs 87.8, 1 S.D.).[]

  • Cerebellar Atrophy

    The aim of this study was to identify clinical and radiological predictors of activities of daily living (ADL) outcomes in children with cerebellar atrophy.[] Furthermore, p.Arg403Trp and p.Arg515Trp rendered QARS less soluble, and p.Arg403Trp disrupted QARS-RARS (arginyl-tRNA synthetase 1) interaction.[] Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2; OMIM 612035) have been linked to leukoencephalopathy recently.[]

  • Polyclonal Hypergammaglobulinemia

    A case of malignant lymphoma with a helper activity of neoplastic cells is reported.[] […] placental 0.227642 ALPL alkaline phosphatase, liver/bone/kidney 0.227297 IL6R interleukin 6 receptor 0.223509 CD40LG CD40 ligand 0.222479 APOA2 apolipoprotein A-II 0.192657 RARS arginyl-tRNA[] No B cell growth factor activity, interleukin-1, or interleukin-6 was detected in the HCCM.[]

  • Hyperornithinemia

    Liver tissue from two patients contained trace activity of the enzyme.[] (Pro) L-prolyl- tRNA(Pro) tRNA(Arg) L-arginyl- tRNA(Arg) Citric Acid Cycle Alanine Metabolism D-Arginine and D-Ornithine Metabolism D-Arginine and D-Ornithine Metabolism[] Argininosuccinic acid is produced from the condensation of citrulline and aspartate by a synthetase enzyme.[]

  • Matthew Wood Syndrome

    […] establish and sustain retinoid-dependent physiological processes, these compounds must be absorbed in the intestine, transported in the body, metabolized to biologically active[] Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase. Binds tRNA. Possesses inflammatory cytokine activity.[] In the last 100 years, the biochemical nature of vitamin A and its active derivative, retinoic acid, its physiological impact on growth processes, and the essential details[]

  • Pontocerebellar Hypoplasia Type 1B

    More on Connective tissue symptoms » Flexion contracture : Summary A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively.[] Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6.[] […] of the PCH1 cases) and, in single cases, recessive mutations have been found in the tRNA splicing endonuclease homolog 54 ( TSEN54 ), mitochondrial arginyl-transfer RNA synthetase[]

  • Micrococcus Luteus

    Reduced p-TUA did not exhibit any activities in J774.1 or THP-1 cells.[] PEP carboxykinase N-terminal domain 1 1 1 1 SCOP 82679 N-utilization substance G protein NusG, N-terminal domain 1 1 1 0 SCOP 56436 C-type lectin-like 1 1 1 0 SCOP 55190 Arginyl-tRNA[] Optimal activity occurred between pH 9.0 and 9.5, with 60% maximal activity from pH 6.5 to 11.0.[]

  • Thrombocytopenia-Absent Radius Syndrome

    […] and, of course, with a reduced total active range of digital motion.[] Innovative discovery of therapeutic, diagnostic, and antibody compositions related to protein fragments of arginyl-trna synthetases WO2011139988A3 ( en ) 2010-05-03 2012-04[] Patients had difficulty with all activities tested, especially grasping large objects.[]

  • Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

    She is chair of the "Erfocentrum" board, treasurer of the European Study Group on Lysosomal Diseases, and involved in activities of the European Working Group on Gaucher Disease[] Protein 2 AIMP2 *600859 Arginyl-tRNA synthetase RARS *107820 Arginyl-tRNA synthetase 2, mitochondrial RARS2 *611524 Asparaginyl-tRNA synthetase NARS *108410 Asparaginyl-tRNA[] (CAPS disease activity score [DAS] [6] 11 of 20) and an SAA level of 154 mg/Hter (normal[]

  • Transitional Pelizaeus-Merzbacher Disease

    Quantitative morphology gives support to the hypothesis that PMD is a disturbance in maturation of neurons and in myelin formation rather than an active degenerative process[] Yang F , Ji QQ , Ruan LL , Ye Q , Wang ED : The mRNA of human cytoplasmic arginyl-tRNA synthetase recruits prokaryotic ribosomes independently .[] It would be interesting to attain a further value of this en- zyme's activity at a later age (could it mature later?)[]