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- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
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- 1. グリコーゲン代謝のその他の障害：GLUT2欠損症およびアルドラーゼA欠損症 other disorders of glycogen metabolism glut2 deficiency and aldolase a deficiency
- 2. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
- 3. 神経筋疾患の評価における筋酵素 muscle enzymes in the evaluation of neuromuscular diseases
- 4. Causes of hypoglycemia in infants and children
- 5. 小児における溶血性貧血の概要 overview of hemolytic anemias in children
English Journal
- Proteomic analysis of Arabidopsis thaliana leaves in response to acute boron deficiency and toxicity reveals effects on photosynthesis, carbohydrate metabolism, and protein synthesis.
- Chen M1, Mishra S2, Heckathorn SA1, Frantz JM3, Krause C3.Author information 1Department of Environmental Sciences, University of Toledo, Toledo, OH 43606, USA.2Department of Environmental Sciences, University of Toledo, Toledo, OH 43606, USA. Electronic address: sasmita.mishra@utoledo.edu.3United States Department of Agriculture-Agricultural Research Service, University of Toledo, Toledo, OH 43606, USA.AbstractBoron (B) stress (deficiency and toxicity) is common in plants, but as the functions of this essential micronutrient are incompletely understood, so too are the effects of B stress. To investigate mechanisms underlying B stress, we examined protein profiles in leaves of Arabidopsis thaliana plants grown under normal B (30μM), compared to plants transferred for 60 and 84h (i.e., before and after initial visible symptoms) in deficient (0μM) or toxic (3mM) levels of B. B-responsive polypeptides were sequenced by mass spectrometry, following 2D gel electrophoresis, and 1D gels and immunoblotting were used to confirm the B-responsiveness of some of these proteins. Fourteen B-responsive proteins were identified, including: 9 chloroplast proteins, 6 proteins of photosynthetic/carbohydrate metabolism (rubisco activase, OEC23, photosystem I reaction center subunit II-1, ATPase δ-subunit, glycolate oxidase, fructose bisphosphate aldolase), 6 stress proteins, and 3 proteins involved in protein synthesis (note that the 14 proteins may fall into multiple categories). Most (8) of the B-responsive proteins decreased under both B deficiency and toxicity; only 3 increased with B stress. Boron stress decreased, or had no effect on, 3 of 4 oxidative stress proteins examined, and did not affect total protein. Hence, our results indicate relatively early specific effects of B stress on chloroplasts and protein synthesis.
- Journal of plant physiology.J Plant Physiol.2014 Feb 15;171(3-4):235-42. doi: 10.1016/j.jplph.2013.07.008. Epub 2013 Aug 27.
- Boron (B) stress (deficiency and toxicity) is common in plants, but as the functions of this essential micronutrient are incompletely understood, so too are the effects of B stress. To investigate mechanisms underlying B stress, we examined protein profiles in leaves of Arabidopsis thaliana plants g
- PMID 23988561
- Hematopoietic sphingosine 1-phosphate lyase deficiency decreases atherosclerotic lesion development in LDL-receptor deficient mice.
- Bot M1, Van Veldhoven PP, de Jager SC, Johnson J, Nijstad N, Van Santbrink PJ, Westra MM, Van Der Hoeven G, Gijbels MJ, Müller-Tidow C, Varga G, Tietge UJ, Kuiper J, Van Berkel TJ, Nofer JR, Bot I, Biessen EA.Author information 1Division of Biopharmaceutics, Leiden Academic Centre for Drug Research, Leiden University, Leiden, The Netherlands.AbstractAIMS: Altered sphingosine 1-phosphate (S1P) homeostasis and signaling is implicated in various inflammatory diseases including atherosclerosis. As S1P levels are tightly controlled by S1P lyase, we investigated the impact of hematopoietic S1P lyase (Sgpl1(-/-)) deficiency on leukocyte subsets relevant to atherosclerosis.
- PloS one.PLoS One.2013 May 20;8(5):e63360. doi: 10.1371/journal.pone.0063360. Print 2013.
- AIMS: Altered sphingosine 1-phosphate (S1P) homeostasis and signaling is implicated in various inflammatory diseases including atherosclerosis. As S1P levels are tightly controlled by S1P lyase, we investigated the impact of hematopoietic S1P lyase (Sgpl1(-/-)) deficiency on leukocyte subsets releva
- PMID 23700419
- Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
- Beck BB1, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B.Author information 1Institute of Human Genetics, University of Cologne, Cologne, Germany.AbstractIdentification of mutations in the HOGA1 gene as the cause of autosomal recessive primary hyperoxaluria (PH) type III has revitalized research in the field of PH and related stone disease. In contrast to the well-characterized entities of PH type I and type II, the pathophysiology and prevalence of type III is largely unknown. In this study, we analyzed a large cohort of subjects previously tested negative for type I/II by complete HOGA1 sequencing. Seven distinct mutations, among them four novel, were found in 15 patients. In patients of non-consanguineous European descent the previously reported c.700+5G>T splice-site mutation was predominant and represents a potential founder mutation, while in consanguineous families private homozygous mutations were identified throughout the gene. Furthermore, we identified a family where a homozygous mutation in HOGA1 (p.P190L) segregated in two siblings with an additional AGXT mutation (p.D201E). The two girls exhibiting triallelic inheritance presented a more severe phenotype than their only mildly affected p.P190L homozygous father. In silico analysis of five mutations reveals that HOGA1 deficiency is causing type III, yet reduced HOGA1 expression or aberrant subcellular protein targeting is unlikely to be the responsible pathomechanism. Our results strongly suggest HOGA1 as a major cause of PH, indicate a greater genetic heterogeneity of hyperoxaluria, and point to a favorable outcome of type III in the context of PH despite incomplete or absent biochemical remission. Multiallelic inheritance could have implications for genetic testing strategies and might represent an unrecognized mechanism for phenotype variability in PH.
- European journal of human genetics : EJHG.Eur J Hum Genet.2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11.
- Identification of mutations in the HOGA1 gene as the cause of autosomal recessive primary hyperoxaluria (PH) type III has revitalized research in the field of PH and related stone disease. In contrast to the well-characterized entities of PH type I and type II, the pathophysiology and prevalence of
- PMID 22781098
Japanese Journal
- 産卵鶏の組織中の遊離アミノ酸濃度とトレオニン代謝酵素活性に対する飼料中のトレオニン含量の影響
- 渡邊 令子,飯塚 貴之,粉川 清生 [他],山本 朱美,石橋 晃
- 日本畜産學會報 = The Japanese journal of zootechnical science 68(6), 529-536, 1997-06-25
- 産卵鶏におけるトレオニン(Thr)代謝の様相を明らかにするために,組織中の遊離アミノ酸(AA)濃度とThr代謝酵素活性に及ぼす飼料中Thr含量の影響について検討した.38週齢の産卵鶏に飼料中Thr濃度が,0.32～0.67%までの5種類の試験飼料を28日間給与した.その後,肝臓,腎臓および十二指腸ホモジネートの3種のAA, Thr,セリン(Ser),グリシン(Gly)濃度と,ThrとSerの分解お …
- NAID 10024586695
- Variations in Copper and Zinc Supply Influence Growth and Activities of Some Enzymes in Maize
- Agrwala Sirish Chandra,Nautiyal Bachendra Datt,Chatterjee Chitralekha,Nautiyal Nirmala
- Soil science and plant nutrition 41(2), 329-335, 1995-06
- … Excess Cu magnified the zinc deficiency effects in maize by lowering further the biomass, the concentration of leaf Zn, activities of carbonic anhydrase, aldolase, and ribonuclease and intensified the visible foliar symptoms of Zn deficiency. … The effects of Cu deficiency, low dry weight, the concentration of leaf Cu and activities of cytochrome oxidase and polyphenol oxidase were enhanced by excess Zn. …
- NAID 110001718547
- 酸マルターゼが正常な糖原病（ｌｙｓｏｓｏｍａｌ ｇｌｙｃｏｇｅｎ ｓｔｏｒａｇｅ ｄｉｓｅａｓｅ ｗｉｔｈ ｎｏｒｍａｌ ａｃｉｄ ｍａｌｔａｓｅ）の１例
- 伊藤 昌弘,浅野 優,下平 雅之,岩川 善英,後藤 雄一,埜中 征哉
- 脳と発達 25(5), 459-464, 1993
- 歳の学校健診でWolff-Parkinson-White症候群と診断され, 13歳で閉塞性肥大型心筋症に進展し, 筋緊張低下と血清クレアチンキナーゼの上昇がみられたため筋生検, 白血球と線維芽細胞のリソゾーム酵素の測定を施行し, 酸マルターゼが正常な糖原病と診断した1例を報告する.本疾患は, 肥大型心筋症, 軽度の精神遅滞, 軽度の筋症状を伴い, 骨格筋にグリコーゲンの蓄積と自己貧食機転の亢進をみ …
- NAID 130004182868
Related Links
- Aldolase A deficiency information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Aldolase A deficiency: Introduction Aldolase A deficiency: A rare ...
- Research test for HNSHA due to aldolase A deficiency offered by HFI Laboratory at Boston University ... IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to ...
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★リンクテーブル★
| リンク元 | 「アルドラーゼ欠損症」 |
| 拡張検索 | 「erythrocyte aldolase deficiency」 |
| 関連記事 | 「deficiency」 |
「アルドラーゼ欠損症」
アルドラーゼA欠損症
- 糖原病XII型
- 4歳児で報告された運動時の筋痛、発熱時の筋力低下を主症状とする新たな筋型糖原病(PED.1519)
アルドラーゼB欠損症 aldolase B deficiency
- first aid step1 2006 p.93
- 常染色体劣性遺伝？
- 遺伝性果糖不耐症を来す
「erythrocyte aldolase deficiency」
「deficiency」
- n.
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve