在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

GAA Antibody

  • 中文名稱:
    GAA兔多克隆抗體
  • 貨號:
    CSB-PA009125GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
  • 別名:
    70 kDa lysosomal alpha-glucosidase antibody; Acid alpha glucosidase antibody; Acid maltase antibody; Aglucosidase alfa antibody; Alpha glucosidase antibody; GAA antibody; Glucosidase alpha acid (Pompe disease glycogen storage disease type II) antibody; Glucosidase alpha acid antibody; Glucosidase alpha antibody; LYAG antibody; LYAG_HUMAN antibody; Lysosomal alpha glucosidase antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human GAA
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IHC
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能:
    Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.
  • 基因功能參考文獻:
    1. PI-rhGAA may have the potential to be a useful therapeutic option for improving the treatment of Pompe disease. PMID: 29102549
    2. The most common mutation was c.-32-13T, G. in Pompe disease. PMID: 29181627
    3. The narrow substrate-binding pocket of rhGAA is located near the C-terminal ends of beta-strands of the catalytic (beta/alpha)8 domain and shaped by a loop from the N-terminal beta-sheet domain and both inserts I and II. PMID: 29061980
    4. This is the first study of rhGAA to differentiate M6P glycans and identify their attachment sites, despite rhGAA already being an approved drug for Pompe disease. PMID: 29274340
    5. GAA mutation is associated with Pompe disease. PMID: 28763149
    6. Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA), alpha-galactosidase A (GLA), alpha-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1)) were measured on ~43,000 de-identified dried blood spot (DBS) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk PMID: 27238910
    7. enzyme replacement therapy (ERT) (alglucosidase alfa) stabilizes respiratory function and improves mobility and muscle strength in late-onset Pompe disease.Lysosomal glycogen in muscle biopsies from treatment-naive LOPD patients was reduced post-ERT (alglucosidase alfa). PMID: 27473031
    8. In adults with Pompe disease, antibody formation does not interfere with rhGAA efficacy in the majority of patients, is associated with IARs, and may be attenuated by the IVS1/delex18 GAA genotype PMID: 27362911
    9. Reanalysis of the patient's DNA sample using next generation sequencing (NGS) of a panel of target genes causing glycogen storage disorders demonstrated compound heterozygosity for a point mutation and an exonic deletion in the GAA gene. PMID: 28657663
    10. Thirteen novel and two common GAA mutations were identified in this study. The allelic frequency of c.2662G > T (p.Glu888X) was 23.1% in northern Chinese patients and 4.2% in southern Chinese patients, whereas the allelic frequency of c.1935C >A (p.Asp645Glu) was 20.8% in southern and 3.8% in northern Chinese patients. PMID: 28394184
    11. This is the first report of the alpha-glucosidase inhibitory activity of compounds 20, 26, and 29, and the findings support the important role of Eremanthus species as novel sources of new drugs and/or herbal remedies for treatment of type 2 diabetes. PMID: 27322221
    12. Compared with controls, GAA gene expression levels in coronary artery disease (CAD) patients were significantly increased, suggesting that GAA may be involved in the CAD development. PMID: 26580301
    13. Study reports on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patients from five unrelated families with the c.-32-13T>G GAA gene mutation in homozygous state. All patients had decreased GAA activity and elevated creatine kinase levels. PMID: 26231297
    14. glycogen storage disease type II is caused by deficiency of GAA activity resulting from mutation of GAA gene PMID: 26575883
    15. RT-PCR followed by DNA sequence analysis of patients with Pompe disease revealed new variant in GAA gene resulting in aberrant splicing event. PMID: 25243733
    16. Findings indicate that GAA c.2238G > C (p.W746C) novel mutation is the most common mutation in mainland Chinese late-onset Pompe patients, as observed in Taiwanese patients expanding the genetic spectrum of the disease. PMID: 25526786
    17. this study shows several alterations distributed along the GAA gene in a sample of Brazilian families. PMID: 25681614
    18. Mutations in acid alpha-glucosidase gene is associated with Pompe disease. PMID: 25026126
    19. GAA deficiency results in reduced mTORC1 activation that is partly responsible for the skeletal muscle wasting phenotype and can be amerliorated by leucine supplementation. PMID: 25231351
    20. The phenotype LO-GSDII with GAA mutation in the North of Italy seems not significantly different from other LO-GSDII populations in Europe or the USA. PMID: 24158270
    21. Data shows the largest informative family with late-onset Pompe disease described in the literature showing a peculiar complex set of mutations of GAA gene that may partially elucidate the clinical heterogeneity of this family. PMID: 24107549
    22. 7 of 27 in: Gene. 2014 Mar 1;537(1) Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease. PMID: 24384324
    23. This study demonstrates that the c.-32-13T>G mutation of GAA gene abrogates the binding of the splicing factor U2AF65 to the polypyrimidine tract of exon 2 and that several splicing factors affect exon 2 inclusion. PMID: 24150945
    24. study describes two unrelated cases affected with classical early-onset Pompe disease, both pertaining to the same small Mexican region, with the same novel homozygous frameshift mutation at gene GAA (c.1987delC) PMID: 24399866
    25. Mutations in the GAA gene is associated with glycogen storage disease type II. PMID: 23884227
    26. Adult patients with alpha-glucosidase mutations other than c.-32-13 T>G can have very low alpha-glucosidase activity in fibroblasts but express higher activity in muscle and store less glycogen in muscle than patients with infantile Pompe disease. PMID: 23000108
    27. Study gave an update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. PMID: 22644586
    28. Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients PMID: 22658377
    29. Report genetic testing to indentify GAA mutations in German patients with late-onset glycogen storage disease type II. PMID: 18607768
    30. we define a critical role for endoplasmic reticulum stress in the activation of autophagy due to the 546G>T acid alpha glucosidase mutation PMID: 21982629
    31. No common mutation is found in association with low levels of acid alpha-glucosidase activity in late-onset Pompe disease; most patients produce unprocessed forms of GAA protein compared with patients who have higher GAA activity. PMID: 21484825
    32. Mutation analysis of the GAA gene revealed the p.D645E in all patients with Pompe disease, suggesting it as the most common mutation in the Thai population. PMID: 21039225
    33. The enzymatic screening of Pompe disease can be justified in patients with myopathies of unknown etiology in this report of a Mexican patient with late-onset glycogen-storage disease type 2. PMID: 20350966
    34. Data show that p.R1147G missense mutation impaired glucosidase activity. PMID: 19834502
    35. Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II PMID: 11854868
    36. novel target of the Notch-1/Hes-1 signaling pathway PMID: 12065598
    37. 2 novel mutations of the acid alpha-glucosidase gene, P361L and R437C, were found in a juvenile-onset glycogen storage disease type II (GSDII) 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also compound heterozygote PMID: 12601120
    38. mutations in the alpha glucosidase gene is associated with infantile onset glycogen storage disease type II. PMID: 12923862
    39. Childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. PMID: 15145338
    40. data show that the mature forms of GAA characterized by polypeptides of 76 or 70 kDa are in fact larger molecular mass multicomponent enzyme complexes; peptides released during proteolytic processing remained tightly associated with the major species PMID: 15520017
    41. 2 novel mutations (Ala237Val and Gly293Arg) were foundin the acid alpha-glucosidase gene in a Pompe disease patient with vascular involvement. PMID: 15668445
    42. Acid-alpha-glucosidase activity and specific activity, and lysosomal glycogen content are useful predictors of age of onset in Pompe disease PMID: 15993875
    43. Complete molecular analysis of the GAA gene of patients with late onset glycogen storage disease type II shows missense mutations and splicing mutations. PMID: 16917947
    44. From 14 Argentinean patients diagnosed with either infantile or late-onset disease, we identified 14 distinct mutations in the acid alpha-glucosidase (GAA) gene including nine novel variants. PMID: 17056254
    45. Two new missense mutations (p.266Pro>Ser and p.439Met>Lys) were new missense mutations causing late onset GSD II. PMID: 17092519
    46. Patients with the same c.-32-13T-->G haplotype (c.q. GAA genotype) may manifest first symptoms at different ages, indicating that secondary factors may substantially influence the clinical course of patients with this mutation. PMID: 17210890
    47. demonstrated a significant increase of GAA activity (1.3-7.5-fold) after imino sugar treatment in fibroblasts from patients carrying the mutations L552P (three patients) and G549R (one patient) PMID: 17213836
    48. N-glycans of recombinant human GAA were expressed in the milk of transgenic rabbits. PMID: 17293352
    49. The role of autophagy in Pompe disease was examined by analyzing single muscle fibers. PMID: 17592248
    50. Mutations in glucosidase alpha is asspciated with glycogen storage disease type II PMID: 17616415

    顯示更多

    收起更多

  • 相關疾病:
    Glycogen storage disease 2 (GSD2)
  • 亞細胞定位:
    Lysosome. Lysosome membrane.
  • 蛋白家族:
    Glycosyl hydrolase 31 family
  • 數據庫鏈接:

    HGNC: 4065

    OMIM: 232300

    KEGG: hsa:2548

    STRING: 9606.ENSP00000305692

    UniGene: Hs.1437



主站蜘蛛池模板: 亚洲成αv人片在线观看| 日日噜噜夜夜狠狠久久蜜桃| 激情综合色五月六月婷婷| 亚洲日韩国产中文其他| 性高湖久久久久久久久| 无码人妻精品一区二区三区99不卡 | 色欲天天婬色婬香视频综合网| 国产精品夜色一区二区三区| 99久久国产露脸国语对白| 亚洲视频日本有码中文| 亚洲精品无码精品mv在线观看| 在教室伦流澡到高潮hgl视频| 精品久久久久久中文字幕| 欧洲美熟女乱又伦免费视频| 亚洲精品少妇高清30p| 四虎成人精品无码| 国产精品久久久久久影视| 久久国产福利一区二区| 综合偷自拍亚洲乱中文字幕| 久久99精品久久久大学生| 国产av激情久久无码天堂| 国产午夜无码片在线观看影视| 国产欧美一区二区精品仙草咪 | 国产 亚洲 制服 无码 中文 | 人妻少妇av中文字幕乱码| 国产亚洲日韩欧美另类第八页| 国产一二三四区乱码免费| 牛和人交videos欧美| 波多野结衣中文字幕一区二区三区| 国产精品亚洲综合一区在线观看| 国产欧美日韩视频一区二区三区 | 国产精品高潮呻吟av久久黄| 精品成在人线av无码免费看| 99蜜桃在线观看免费视频网站| 国产超碰人人模人人爽人人喊| 精品国产一区二区三区免费| 国产蜜臀av在线一区尤物| 美女被张开双腿日出白浆| 久久精品国产精品亚洲蜜月| 老太婆性杂交欧美肥老太| 无码写真精品永久福利在线|