WordNet
- a crystalline amino acid found in proteins and in many plants (e.g., asparagus)
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/10/21 23:56:15」(JST)
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- 1. T細胞陰性、B細胞陰性、NK細胞陽性の重度複合型免疫不全 t cell negative b cell negative nk cell positive severe combined immunodeficiency
- 2. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis
- 3. 分子遺伝学の原理 principles of molecular genetics
- 4. 炎症性ミオパチーの病因 pathogenesis of inflammatory myopathies
- 5. 成人の皮膚筋炎および多発性筋炎の臨床症状と診断 clinical manifestations and diagnosis of adult dermatomyositis and polymyositis
English Journal
- Adipostatins A-D from Streptomyces sp. 4875 inhibiting Brugia malayi asparaginyl-tRNA synthetase and killing adult Brugia malayi parasites.
- Rateb ME1, Yang D1, Vodanovic-Jankovic S2, Yu Z1, Kron MA2, Shen B3.
- The Journal of antibiotics.J Antibiot (Tokyo).2015 Mar 4. doi: 10.1038/ja.2015.22. [Epub ahead of print]
- PMID 25735843
- Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
- Simon M1, Richard EM2, Wang X3, Shahzad M2, Huang VH3, Qaiser TA4, Potluri P5, Mahl SE6, Davila A7, Nazli S4, Hancock S8, Yu M9, Gargus J10, Chang R11, Al-Sheqaih N12, Newman WG12, Abdenur J11, Starr A13, Hegde R14, Dorn T15, Busch A16, Park E17, Wu J18, Schwenzer H19, Flierl A20, Florentz C19, Sissler M19, Khan SN4, Li R3, Guan MX3, Friedman TB21, Wu DK22, Procaccio V23, Riazuddin S24, Wallace DC5, Ahmed ZM2, Huang T3, Riazuddin S2.
- PLoS genetics.PLoS Genet.2015 Mar 25;11(3):e1005097. doi: 10.1371/journal.pgen.1005097. eCollection 2015.
- Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations
- PMID 25807530
- Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
- Vanlander AV1, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R.
- Human mutation.Hum Mutat.2015 Feb;36(2):222-31. doi: 10.1002/humu.22728.
- A homozygous missense mutation (c.822G>C) was found in the gene encoding the mitochondrial asparaginyl-tRNA synthetase (NARS2) in two siblings born to consanguineous parents. These siblings presented with different phenotypes: one had mild intellectual disability and epilepsy in childhood, wherea
- PMID 25385316
Related Links
- The European Bioinformatics Institute ... Database Code Database Name UniProtKB Universal Protein Knowledgebase UniProtKB/Swiss-Prot UniProtKB/Swiss-Prot UniProtKB/TrEMBL UniProtKB-TrEMBL protein sequence database
- COPE Homepage Bottom of page Previous entry: ASP Next entry: Asparaginyl-tRNA synthetase Random entry: Angiogenin-4 Search COPE: COPEing Friends for COPE Fund Asparagine-tRNA Ligase approved gene symbol: NARS. abbr. ...
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★リンクテーブル★
| リンク元 | 「asparaginyl-tRNA synthetase」「アスパラギンtRNAリガーゼ」 |
| 関連記事 | 「asparagine」「tRNA」「ligase」「tRNAs」「tRNA ligase」 |
「asparaginyl-tRNA synthetase」
アスパラギニルtRNA合成酵素、アスパラギニルtRNAシンテターゼ
「アスパラギンtRNAリガーゼ」
「asparagine」
- 関
- Asn、L-asparagine、N
「tRNA」
[★] トランスファーRNA, transfer RNA, 転位RNA