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培養線維芽細胞の酸性α-グルコシダーゼ
から減少の結果
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とは何か 'acid alpha-glucosidase in cultured fibroblasts'?
に定義されています 培養線維芽細胞の酸性α-グルコシダーゼ
acid alpha-glucosidase in cultured fibroblasts なる 医療処置 このような診断のために使用: グリコーゲン貯蔵病のタイプ2.
related diagnosis for '培養線維芽細胞の酸性α-グルコシダーゼ'
1 - 1 of
1
診断
グリコーゲン貯蔵病のタイプ2
storage disease due to accumulation of glycogen in various organs
培養線維芽細胞の酸性α-グルコシダーゼ および グリコーゲン貯蔵病のタイプ2
related procedure for '培養線維芽細胞の酸性α-グルコシダーゼ'/関連する診断
1 - 5 of
17
手順
腹部のCATスキャンを
培養線維芽細胞の酸性α-グルコシダーゼ および 腹部のCATスキャンを
生検のスキンです
培養線維芽細胞の酸性α-グルコシダーゼ および 生検のスキンです
心エコー図
培養線維芽細胞の酸性α-グルコシダーゼ および 心エコー図
心電図
Electrocardiogram
培養線維芽細胞の酸性α-グルコシダーゼ および 心電図
筋電図筋電図
培養線維芽細胞の酸性α-グルコシダーゼ および 筋電図筋電図
酵素補充
培養線維芽細胞の酸性α-グルコシダーゼ および 酵素補充
肝機能検査
elevated liver enzymes
培養線維芽細胞の酸性α-グルコシダーゼ および 肝機能検査
リソソーム酵素
培養線維芽細胞の酸性α-グルコシダーゼ および リソソーム酵素
分子遺伝学的研究
培養線維芽細胞の酸性α-グルコシダーゼ および 分子遺伝学的研究
筋生検
培養線維芽細胞の酸性α-グルコシダーゼ および 筋生検
血清クレアチンキナーゼのCKの
培養線維芽細胞の酸性α-グルコシダーゼ および 血清クレアチンキナーゼのCKの
尿中ケトン
培養線維芽細胞の酸性α-グルコシダーゼ および 尿中ケトン
尿糖
培養線維芽細胞の酸性α-グルコシダーゼ および 尿糖
白血球細胞の酸α-グルコシダーゼ
培養線維芽細胞の酸性α-グルコシダーゼ および 白血球細胞の酸α-グルコシダーゼ
生化学的研究のための培養皮膚線維芽細胞
培養線維芽細胞の酸性α-グルコシダーゼ および 生化学的研究のための培養皮膚線維芽細胞
線維芽細胞に直接酵素アッセイ
培養線維芽細胞の酸性α-グルコシダーゼ および 線維芽細胞に直接酵素アッセイ
白血球細胞に直接酵素アッセイ
培養線維芽細胞の酸性α-グルコシダーゼ および 白血球細胞に直接酵素アッセイ
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related medication for '培養線維芽細胞の酸性α-グルコシダーゼ'/関連する診断
1 - 5 of
17
薬
alglucosidase alfa
培養線維芽細胞の酸性α-グルコシダーゼ および alglucosidase alfa
医師は、次の種類に関連している '培養線維芽細胞の酸性α-グルコシダーゼ'.
医師の関連する型 'family practitioner, genetics specialist, internist, metabolic specialist'
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ウェブ検索結果調査のための '培養線維芽細胞の酸性α-グルコシダーゼ'?
その結果
1 - 50
- acid alpha-glucosidase in cultured fibroblasts
Intravenous administration of phosphorylated acid alpha-glucosidase ...
... in cultured fibroblasts from glycogenosis type II patients after uptake ... and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=296338
www.pubmedcentral.nih.gov
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summary
eMedicine - Glycogen-Storage Disease Type II : Article by Jennifer Ibrahim
... of acid alpha-glucosidase activity in cultured skin fibroblasts or ... Skin biopsy findings reveal acid alpha-glucosidase activity in cultured fibroblasts. ...
http://www.emedicine.com/ped/TOPIC1866.HTM
www.emedicine.com
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summary
Glycogen Storage Disease Type II (Pompe Disease) -- GeneReviews -- NCBI ...
... of acid alpha-glucosidase (GAA) enzyme activity in cultured skin fibroblasts or ... of acid alpha-glucosidase enzyme activity in skin fibroblasts, muscle, or ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd2
www.ncbi.nlm.nih.gov
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summary
Genetics of type II glycogenosis: Assignment of the human gene for acid ...
... diploid fibroblasts for the expression of human acid ?-glucosidase (EC 3.2.1.20) ... G, Harris H, Hirschhorn R. Acid alpha-glucosidase: a new polymorphism in man ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?&artid=411610
www.pubmedcentral.nih.gov
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summary
eMedicine - Lysosomal Storage Disease : Article by Noah S Scheinfeld
... the gene encoding for acid alpha-glucosidase has been localized to ... form of acid glucosidase in muscle biopsy samples and cultured fibroblasts. ...
http://www.emedicine.com/neuro/topic668.htm
www.emedicine.com
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summary
2 selected items - PubMed Results
... functional deficiency of acid alpha-glucosidase (GAA) that leads to glycogen ... was confirmed by alpha-glucosidase determination in cultured fibroblasts. ...
http://www.ncbi.nlm.nih.gov/pubmed/18211760,18425781?dopt=Citation
www.ncbi.nlm.nih.gov
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summary
Expression and routeing of human lysosomal alpha-glucosidase in ...
... localization of acid alpha-glucosidase in mutant fibroblasts. ... acid alpha-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1149726
www.pubmedcentral.nih.gov
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summary
eMedicine - Acid Maltase Deficiency Myopathy : Article by Michael Weinik
... determining the total acid alpha-glucosidase in plasma or ... reduction in the levels of alpha-acid maltase in muscle tissue or cultured skin fibroblasts. ...
http://www.emedicine.com/pmr/topic2.htm
www.emedicine.com
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summary
E0000048|AA|acronym|E0000204|Alcoholics Anonymous| E0000048|AA ...
... associated Kaposi's sarcoma| E0000084|ALA|acronym|E0008558|aminolevulinic acid ... alpha subunit glycoprotein hormone| E0000116|ASO|acronym|E0010515 ...
http://lexsrv3.nlm.nih.gov/SPECIALIST/Projects/lexicon/2003/...
lexsrv3.nlm.nih.gov
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summary
Biochemical, immunological, and cell genetic studies in glycogenosis ...
Glycogen levels in muscle biopsies and in cultured fibroblasts from patients were determined. ... properties of acid alpha-glucosidase in fibroblasts from the adult ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1685555
www.pubmedcentral.nih.gov
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summary
[Clinical and molecular genetic study on two patie...[Zhonghua Er Ke Za ...
... functional deficiency of acid alpha-glucosidase (GAA) that leads to glycogen ... was confirmed by alpha-glucosidase determination in cultured fibroblasts. ...
http://www.ncbi.nlm.nih.gov/pubmed/18211760?dopt=Citation
www.ncbi.nlm.nih.gov
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summary
Characterization of the molecular defect in infantile and adult acid ...
... defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts. ... Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=371892
www.pubmedcentral.nih.gov
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summary
eMedicine - Metabolic Myopathies : Article by Bashar Katirji
... is deficient in muscle, liver, heart, leukocytes, and cultured fibroblasts. ... Recently, intravenous recombinant acid alpha-glucosidase (rhGAA) was used in a ...
http://www.emedicine.com/neuro/topic672.htm
www.emedicine.com
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summary
High-level production of recombinant human lysosomal acid alpha ...
... fibroblasts from Pompe patients, restoring normal levels of acid alpha ... and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=40179
www.pubmedcentral.nih.gov
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summary
Clinical diversity in glycogenosis type II. Biosynthesis and in situ ...
... and in situ localization of acid alpha-glucosidase in mutant ... nature of acid alpha-glucosidase deficiency in cultured fibroblasts from 30 patients. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=424503
www.pubmedcentral.nih.gov
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summary
ChemIDPlus/HSDB 63-25-2 Toxicity - National Toxicology Program
BEEN REPORTED IN CULTURED HUMAN EMBRYONIC FIBROBLASTS. ... In contrast with acetylsalicylic acid, which acetylates only one protein, ...
http://ntp.niehs.nih.gov/index.cfm?objectid=E881C24F-BDB5-82F8-FB51983AF1B65FCD
ntp.niehs.nih.gov
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summary
eMedicine - Disorders of Carbohydrate Metabolism : Article by Pieter R Kark
A defect of acid maltase or alpha-glucosidase causes Pompe disease, the ... This can be assayed in WBCs, cultured fibroblasts (including those from amniotic ...
http://www.emedicine.com/neuro/topic679.htm
www.emedicine.com
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summary
Free Sialic Acid Storage Disorders -- GeneReviews -- NCBI Bookshelf
Cultured fibroblasts from individuals with Salla disease and individuals with ... disease, beta-glucosidase deficiency, acid sphingomyelinase deficiency, acid ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=issd
www.ncbi.nlm.nih.gov
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summary
Disturbance of lysosomal glycogen metabolism by liposomal anti-alpha ...
... CB, Sica V. Further purification and characterization of the acid ?-glucosidase. ... in vivo of the lysosomal pathway of glycogen catabolism in cultured human ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1152015
www.pubmedcentral.nih.gov
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summary
alpha-Glucosidase and N-acetylglucosamine-6-sulphatase are the major ...
Studies on the pathogenetic mechanism of I-cell disease in cultured fibroblasts. Pediatr Res. ... of lysosomal acid alpha-glucosidase during intracellular ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1218398
www.pubmedcentral.nih.gov
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summary
Free Sialic Acid Storage Disorders
Cultured fibroblasts from individuals with Salla disease and individuals with ISSD ... glucosidase deficiency, acid sphingomyelinase deficiency, acid lipase ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Regional assignment of the structural gene for human alpha-L-iduronidase.
Maturation of alpha-L-iduronidase in cultured human fibroblasts. J Biol Chem. ... K. Genetic heterogeneity in acid alpha-glucosidase deficiency. Am J Hum ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=344787
www.pubmedcentral.nih.gov
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summary
Mutations of glucocerebrosidase: discrimination of neurologic and non ...
... Properties of beta-glucosidase in cultured skin fibroblasts from controls and ... antibodies against human acid alpha-glucosidase. Biochim Biophys Acta. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=346953
www.pubmedcentral.nih.gov
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summary
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in ...
... demonstration of peroxisomes in cultured fibroblasts from patients with ... precursor and mature forms of human lysosomal alpha-glucosidase. Eur J Biochem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=386458
www.pubmedcentral.nih.gov
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summary
Human lysosomal acid phosphatase: cloning, expression and chromosomal ...
... acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three ... and processing of lysosomal acid phosphatase in cultured human cells. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=457099
www.pubmedcentral.nih.gov
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summary
eMedicine - Lipid Storage Disorders : Article by Margaret McGovern
... of specific enzymatic activity in isolated leukocytes or cultured fibroblasts. ... Acid b-glucosidase cDNA has been cloned and mutant alleles have been identified ...
http://www.emedicine.com/ped/topic1310.htm
www.emedicine.com
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summary
Gaucher Disease -- GeneReviews -- NCBI Bookshelf
... to exhibit these properties in studies of cultured fibroblasts in vitro, is ... GLUCOSIDASE, BETA, ACID; GBA. 608013. GAUCHER DISEASE, PERINATAL LETHAL ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gaucher
www.ncbi.nlm.nih.gov
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summary
eMedicine - Glycogen-Storage Disease Type III : Article by David Tegay
... in liver, skeletal muscle, heart, erythrocytes, and cultured fibroblasts. ... by 2 different mutations in exon 3 at the amino acid codon 6. No known mechanism ...
http://www.emedicine.com/ped/topic479.htm
www.emedicine.com
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summary
Gaucher Disease
these properties in studies of cultured fibroblasts in vitro, is currently in ... GLUCOSIDASE, BETA, ACID; GBA. 608013. GAUCHER DISEASE, PERINATAL LETHAL ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Characterization of iduronate sulphatase mutants affecting ...
Human lysosomal alpha-glucosidase: functional characterization of ... A, -B and -C in cultured fibroblasts from patients with multiple sulphatase deficiency. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1218661
www.pubmedcentral.nih.gov
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summary
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of ...
... residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic ... Suzuki K. Human beta-hexosaminidase alpha chain: coding sequence and homology ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1684132
www.pubmedcentral.nih.gov
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summary
Genetic Basis for Correction of Very-Long-Chain Acyl?Coenzyme A ...
... of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. ... defects of fatty acid oxidation in intact cultured fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2276345
www.pubmedcentral.nih.gov
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summary
Enzyme activities in endothelial cells and smooth muscle cells from ...
In populations of cultured arterial endothelial and smooth muscle cells grown ... cytochrome c reductase, alpha-glucosidase, 5'-nucleotidase, alkaline ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=383641
www.pubmedcentral.nih.gov
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summary
Sodium-stimulated alpha-aminoisobutyric acid transport by membrane ...
... of transport of alpha-aminoisobutyric acid are shown to be ... demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts. Am J Hum Genet. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=430416
www.pubmedcentral.nih.gov
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summary
Mucopolysaccharidosis type I subtypes. Presence of immunologically ...
Maturation of alpha-L-iduronidase in cultured human fibroblasts. J Biol Chem. ... K. Genetic heterogeneity in acid alpha-glucosidase deficiency. Am J Hum ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=442479
www.pubmedcentral.nih.gov
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summary
Juvenile and adult metachromatic leukodystrophy: partial restoration of ...
... A polypeptides were examined in cultured fibroblasts from a patient with ... Biosynthesis of acid alpha-glucosidase in late-onset forms of glycogenosis type ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=534361
www.pubmedcentral.nih.gov
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summary
NIH Research Festival 2005
Protective Effect of Docosahexaenoic Acid in Rat Cerebellar Granular Cells. APO-2 ... A Role of Estrogen/ER Alpha Signaling in BRCA1-Associated Tissue Specific ...
http://researchfestival.nih.gov/sessions/CategoryAPO.html
researchfestival.nih.gov
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summary
Direct multiplex assay of enzymes in dried blood spots by tandem mass ...
... 1,4-?-glucosidase in human fetal and adult tissues and cultured cells. ... Determination of acid alpha-glucosidase activity in blood spots as a diagnostic ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2488386
www.pubmedcentral.nih.gov
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summary
Human acid ceramidase: processing, glycosylation, ...[J Biol Chem. 2001 ...
... of sphingolipid activator protein (SAP )precursor in cultured human fibroblasts. ... precursor form of acid alpha-glucosidase corrects the enzyme ...
http://www.ncbi.nlm.nih.gov/pubmed/11451951
www.ncbi.nlm.nih.gov
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summary
An isozyme of acid alpha-glucosidase with reduced catalytic activity ...
Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients. ... defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1686008
www.pubmedcentral.nih.gov
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summary
Glycogen accumulation in cultured skin fibroblasts.
... R, Dorfman A. Acid mucopolysaccharides in cultured human fibroblasts. Lancet. ... HM, Grunfeld A. Lysosomal alpha-glucosidase in type II glycogenosis; activity ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1174342
www.pubmedcentral.nih.gov
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summary
Destabilization of the Retinoblastoma Tumor Suppressor by Human ...
... for G1 control in DNA-damaged mouse embryo fibroblasts ... P. Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=114400
www.pubmedcentral.nih.gov
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summary
Glucose persistence on high-mannose oligosaccharides selectively ...
... the prelysosomal compartment in cultured rat fibroblasts. Eur J Cell Biol. ... a Chinese hamster ovary mutant deficient in alpha-glucosidase I. J Biol Chem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1220778
www.pubmedcentral.nih.gov
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summary
Small-molecule therapeutics for the treatment of glycolipid lysosomal ...
Sphingolipid metabolism in cultured fibroblasts: microscopic and biochemical ... alpha-glucosidase inhibitor (BAY m1099-miglitol) in insulin-treated type 2 ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1693180
www.pubmedcentral.nih.gov
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summary
GERp95, a Membrane-associated Protein that Belongs to a Family of ...
Induction of cultured cells to undergo morphological changes can result in the ... proteins as the alpha- and beta-subunits of the alpha-glucosidase II. J Biol Chem. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=25603
www.pubmedcentral.nih.gov
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summary
Assignment of the structural gene for the third component of human ...
... (C3) is synthesized and secreted by cultured human primary fibroblasts. ... Assignment of the human acid alpha-glucosidase gene (alphaGLU) to chromosome 17 ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=346818
www.pubmedcentral.nih.gov
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summary
The Papillomavirus E7 Oncoprotein Is Ubiquitinated by UbcH7 and Cullin ...
... mouse embryo fibroblasts (MEFs) were cultured as described ... Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=400333
www.pubmedcentral.nih.gov
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summary
Human Papillomavirus Type 16 E7 Oncoprotein Binds and Inactivates ...
PC-3 cells were cultured in RPMI or FK-12 medium, both ... P. Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...
www.pubmedcentral.nih.gov
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summary
Retinal expression, regulation, and functional bioactivity of ...
... factor alpha stimulates prostacyclin production by cultured human vascular ... hemodynamics in diabetic rats by acarbose, an alpha-glucosidase inhibitor. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...
www.pubmedcentral.nih.gov
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summary
Examination of the pRb-Dependent and pRb-Independent Functions of E7 In ...
... accumulation of p21 in E7-expressing fibroblasts occurs with only ... Allosteric activation of acid alpha-glucosidase by the human papillomavirus E7 protein. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pub...
www.pubmedcentral.nih.gov
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summary
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