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2,279 Possible Causes for 2,, arginyl tRNA, mitochondrial, synthetase

  • TMEM70-Related Mitochondrial Encephalo-Cardio-Myopathy

    Ann Clin Transl Neurol 2015 ; 2 : 492 – 509 . 9. Shehata , BM , Cundiff , CA , Lee , K , et al .[cambridge.org] Genes Involved in Mitochondrial Dynamics Mitochondrial fusion and fission (collectively termed mitochondrial dynamics) are important for mitochondrial inheritance and for[basicmedicalkey.com] […] synthetase 11q14.1 AR Alpers syndrome / Nonsyndromic Deafness and Leigh Syndrome [lix] PARS2 612036 Prolyl- tRNA Synthetase 1p32.3 AR Alpers syndrome [lx] RARS2 611523 arginyl-tRNA[mitomap.org] New Tests Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with[preventiongenetics.com]

  • Mitochondrial Myopathy and Sideroblastic Anemia

    Schmitt , 1 Zhiyv Niu , 1 Rodrigo Erana , 2 Jill V. Hunter , 3 Brett H.[ncbi.nlm.nih.gov] We report four new cases of mitochondrial myopathy and sideroblastic anemia (MSA).[ncbi.nlm.nih.gov] […] synthetase 11q14.1 AR Alpers syndrome / Nonsyndromic Deafness and Leigh Syndrome [lix] PARS2 612036 Prolyl- tRNA Synthetase 1p32.3 AR Alpers syndrome [lx] RARS2 611523 arginyl-tRNA[mitomap.org] Mitochondrial aminoacyl-tRNA synthetases in human disease.[ncbi.nlm.nih.gov]

  • Influenza

    Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug, 2,6-diamino-purine-2'-fluororiboside[ncbi.nlm.nih.gov] The influenza A virus PB1-F2 protein targets the inner mitochondrial membrane via a predicted basic amphipathic helix that disrupts mitochondrial function.[doi.org] Broad‐spectrum antiviral and cytocidal activity of cyclopentenylcytosine, a carbocyclic nucleoside targeted at CTP synthetase .[ncbi.nlm.nih.gov] DOI: 10.1128/AAC.38.8.1864 ABSTRACT Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug[doi.org]

    Missing: arginyl tRNA
  • Hyperornithinemia

    Abstract 3-Amino-2-piperidone, a delta-lactam of ornithine, has been detected in the urine of a number of patients with hyperornithinemia.[ncbi.nlm.nih.gov] […] membrane; and "bulges" of mitochondrial matrix occasionally formed between these two membranes.[ncbi.nlm.nih.gov] (Arg) L-Arginyl- tRNA(Arg) tRNA(Pro) L-Prolyl- tRNA(Pro) Citric Acid Cycle Alanine Metabolism D-Arginine and D-Ornithine Metabolism D-Arginine and D-Ornithine Metabolism[smpdb.ca] Argininosuccinic acid is produced from the condensation of citrulline and aspartate by a synthetase enzyme.[emedicine.medscape.com]

  • Autosomal Recessive Sideroblastic Anemia

    The most common cause of non-syndromic, microcytic sideroblastic anemia is a defect in the X-linked 5-aminolevulinate synthase 2 gene but this is not always present.[ncbi.nlm.nih.gov] […] define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial[ncbi.nlm.nih.gov] […] synthetase 11q14.1 AR Alpers syndrome / Nonsyndromic Deafness and Leigh Syndrome [lix] PARS2 612036 Prolyl- tRNA Synthetase 1p32.3 AR Alpers syndrome [lx] RARS2 611523 arginyl-tRNA[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]

  • Combined Oxidative Phosphorylation Deficiency 22

    Image: PD 2017 2 Minute Medicine, Inc . All rights reserved. No works may be reproduced without expressed written consent from 2 Minute Medicine, Inc .[2minutemedicine.com] mitochondrial membrane: Embedded in membrane ?[neuromuscular.wustl.edu] […] synthetase 11q14.1 AR Alpers syndrome / Nonsyndromic Deafness and Leigh Syndrome [lix] PARS2 612036 Prolyl- tRNA Synthetase 1p32.3 AR Alpers syndrome [lx] RARS2 611523 arginyl-tRNA[mitomap.org] Talk to our genetiec expert 55 644 5590 All the samples are tested by 2 different teams to get accurate test results.[dnalabsuae.com]

  • Sensory Ataxic Neuropathy - Dysarthria - Ophthalmoparesis Syndrome

    SANDO syndrome Sensory ataxic neuropathy, dysarthria, and ophthalmoplegia Material 2 ml EDTA blood OMIM 174763, 606075 Methods Verification of mutations in the POLG1, and[labor-lademannbogen.de] Mitochondrial disorders are clinically heterogeneous. Result from dysfunction of the mitochondrial respiratory chain.[clinicaladvisor.com] […] synthetase 11q14.1 AR Alpers syndrome / Nonsyndromic Deafness and Leigh Syndrome [lix] PARS2 612036 Prolyl- tRNA Synthetase 1p32.3 AR Alpers syndrome [lx] RARS2 611523 arginyl-tRNA[mitomap.org] PubMed CrossRef Google Scholar 2. Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V.[link.springer.com]

  • X-Linked Sideroblastic Anemia and Ataxia

    A single missense mutation was found in exon 10 of the ABC7 gene in 2 affected brothers with XLSA/A.[ncbi.nlm.nih.gov] These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome.[ncbi.nlm.nih.gov] […] synthetase 11q14.1 AR Alpers syndrome / Nonsyndromic Deafness and Leigh Syndrome [lix] PARS2 612036 Prolyl- tRNA Synthetase 1p32.3 AR Alpers syndrome [lx] RARS2 611523 arginyl-tRNA[mitomap.org] Gels were run for 2–16 h (3000 V h/100 bp), dried and exposed to X-ray film for 2–12 h.[academic.oup.com]

  • Autosomal Dominant Progressive External Ophthalmoplegia Type 3

    Although they were once thought to be 3 separate diseases; from least to … Zellweger Syndrome November 2, 2017 by Peter Ciszewski Overview Zellweger syndrome (cerebrohepatorenal[checkrare.com] Mitochondrial (maternal) inheritance This occurs when the genetic error is in the mitochondrial DNA.[mda.org.au] […] synthetase 11q14.1 AR Alpers syndrome / Nonsyndromic Deafness and Leigh Syndrome [lix] PARS2 612036 Prolyl- tRNA Synthetase 1p32.3 AR Alpers syndrome [lx] RARS2 611523 arginyl-tRNA[mitomap.org] Mucolipidosis type 2 and 3 ( 1 Files ) Disease name: Mucolipidosis Type 2 and 3 ICD 10: E77.0 Synonyms: Mucolipidosis type 2 - I-cell disease N-acetyl-glucosamine 1-phosphotransferase[orphananesthesia.eu]

  • Isolated CoQ-Cytochrome C Reductase Deficiency

    N-OXIDE DB07778 FAMOXADONE DB07401 METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE DB08330 METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL[uniprot.org] mitochondrial membrane: Embedded in membrane ?[neuromuscular.wustl.edu] ., 14 , 428 – 434 . 21 ( 2007 ) Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia . Am. J.[doi.org] . : Succinyl CoA Synthetase. In: The Enzymes (P. D. Boyer, Ed.), 3rd. Ed., Vol. X, p. 581–606, New York: Academic Press 1974.[link.springer.com]