ピルビン酸キナーゼ欠乏症
WordNet
- an enzyme that catalyzes the conversion of a proenzyme to an active enzyme
- the basic unit of money in Papua New Guinea
PrepTutorEJDIC
- 《所有・所属》…『の』,…のものである,…に属する・《材料・要素》…『でできた』,から成る・《部分》…『の』[『中の』] ・《数量・単位・種類を表す名詞に付いて》…の・《原因・動機》…『で』,のために(because of) ・《主格関係》…『の』,による,によって・《目的格関係》…『を』,の・《同格関係》…『という』・《関係・関連》…『についての』[『の』],の点で・《抽象名詞などと共に》…の[性質をもつ] ・《『It is』+『形』+『of』+『名』+『to』 doの形で,ofの後の名詞を意味上の主語として》・《分離》…『から』・《起原・出所》…『から』[『の』](out of) ・《『名』+『of』+『a』(『an』)+『名』の形で》…のような・《『名』+『of』+『mine』(『yours, his』など独立所有格)の形で》…の…・《時》(1)《副詞句を作って》…に《形容詞句を作って》…の・《時刻》《米》…前(to,《米》before)
- 〈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
- OLD French古[代]フランス語
UpToDate Contents
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English Journal
- Tanaka KR, Valentine WN, Miwa S. Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia. Blood. 1962;19(3):267-295.
- [No authors listed]
- Blood.Blood.2016 May 26;127(21):2505. doi: 10.1182/blood-2016-02-702365.
- PMID 27231390
- eEF-2 kinase is a critical regulator of Warburg effect through controlling PP2A-A synthesis.
- Cheng Y1,2, Ren X2, Yuan Y3, Shan Y2, Li L1, Chen X1, Zhang L2, Takahashi Y2, Yang JW2, Han B4, Liao J5, Li Y2, Harvey H6, Ryazanov A7, Robertson GP2, Wan G2, Liu D3, Chen AF8, Tao Y9, Yang JM2.
- Oncogene.Oncogene.2016 May 16. doi: 10.1038/onc.2016.166. [Epub ahead of print]
- Cancer cells predominantly metabolize glucose by glycolysis to produce energy in order to meet their metabolic requirement, a phenomenon known as Warburg effect. Although Warburg effect is considered a peculiarity critical for survival and proliferation of cancer cells, the regulatory mechanisms beh
- PMID 27181208
- Safe and Efficient Preclinical Gene Therapy for Pyruvate Kinase Deficiency.
- Garcia-Gomez M1,2, Calabria A3, Garcia-Bravo M1,2, Benedicenti F3, Kosinski P4, López-Manzaneda S1,2, Hill C4, Mañu-Pereira MD5, Martín MA1,2, Orman I1,2, Kung C4, Schambach A6, Jin S4, Bueren JA1,2, Montini E3, Navarro S1,2, Segovia JC1,1.
- Molecular therapy : the journal of the American Society of Gene Therapy.Mol Ther.2016 May 3. doi: 10.1038/mt.2016.87. [Epub ahead of print]
- Pyruvate Kinase Deficiency (PKD) is a monogenic metabolic disease caused by mutations in the PKLR gene that leads to hemolytic anemia of variable symptomatology and that can be fatal during the neonatal period. PKD recessive inheritance trait and its curative treatment by allogeneic bone marrow tran
- PMID 27138040
Japanese Journal
- Internal Medicine : Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan
- Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan
- KUSHIDA Kazuya,GIGER Urs,TSUTSUI Toshihiko,INABA Megumi,KONNO Yoshio,HAYASHI Kureha,NOGUCHI Kana,YABUKI Akira,MIZUKAMI Keijiro,KOHYAMA Moeko,ENDO Yasuyuki,YAMATO Osamu
- Journal of
- … Erythrocyte pyruvate kinase (PK) deficiency is an inherited glycolytic erythroenzymopathy caused by mutations of the PKLR gene. … A causative mutation of the feline PKLR gene was originally identified in Abyssinian and Somali cats in the U.S.A. …
- NAID 130005085863
- Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan
- KUSHIDA Kazuya,GIGER Urs,TSUSUI Toshihiko,INABA Megumi,KONNO Yoshio,HAYASHI Kureha,NOGUCHI Kana,YABUKI Akira,MIZUKAMI Keijiro,KOHYAMA Moeko,ENDO Yasuyuki,YAMATO Osamu
- Journal of
- … Erythrocyte pyruvate kinase (PK) deficiency is an inherited glycolytic erythroenzymopathy caused by mutations of the PKLR gene. … A causative mutation of the feline PKLR gene was originally identified in Abyssinian and Somali cats in the U.S.A. … Furthermore, a genotyping survey was carried out in a population of four popular purebred cats in Japan to determine the current mutant allele frequency. …
- NAID 130004781100
Related Links
- Pyruvate kinase deficiency is an inherited lack of the enzyme pyruvate kinase, which is used by red blood cells. Without this enzyme, red blood cells break down too easily, resulting in low levels of these cells (hemolytic ...
- Pyruvate kinase deficiency is one of the most common enzymatic defects of the erythrocyte. This disorder manifests clinically as a hemolytic anemia, with its clinical severity ranging from a mildly compensated anemia to ...
Related Pictures
★リンクテーブル★
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- 英
- pyruvate kinase deficiency PK deficiency, PKD, deficiency of pyruvate kinase, deficiency of PK
- 同
- ピルビン酸キナーゼ欠損症
- 関
- ピルビン酸キナーゼ
- first aid step1 2006 p.89
遺伝
病態生理
- 赤血球:ATP、ピルビン酸、NADの減少。2,3-DPGの増加
症状
USMLE
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- 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
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キナーゼ カイネース リン酸化酵素 phosphoenzyme phosphotransferase
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ピルビン酸 pyruvic acid
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ピルビン酸キナーゼ