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

IDUA Antibody

  • 中文名稱:
    IDUA兔多克隆抗體
  • 貨號(hào):
    CSB-PA011000GA01HU
  • 規(guī)格:
    ¥3,900
  • 其他:

產(chǎn)品詳情

  • Uniprot No.:
  • 基因名:
  • 別名:
    IDUA antibody; Alpha-L-iduronidase antibody; EC 3.2.1.76 antibody
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human IDUA
  • 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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA,WB
  • Protocols:
  • 儲(chǔ)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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 基因功能參考文獻(xiàn):
    1. 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
    2. Using lysosomal storage disease mucopolysaccharidosis type I (MPS I) dogs tolerized to human IDUA as neonates, we evaluated intrathecal delivery of an adeno-associated virus serotype 9 vector expressing human IDUA as a therapy for the central nervous system manifestations of MPS PMID: 27386755
    3. IDUA deletion mutation is associate with with mucopolysaccharidosis type I . PMID: 28604952
    4. 10 unrelated Korean patients with Mucopolysaccharidosis I, p.L346R and c.704ins5 were most commonly found in Korean patients with Mucopolysaccharidosis I. PMID: 27520059
    5. Molecular studies results unveiled the predominance of(Pro533Arg) IDUA variation in a series of 13 Algerian patients with Mucopolysaccharidosis Type I presented mainly with an attenuated phenotype. PMID: 27196898
    6. A new IDUA variant that alters the structure of the signal peptide associated with mucopolysaccharidosis type I is reported. PMID: 25256405
    7. Amino acid substitutions in alpha-L-iduronidase determine the severity of mucopolysaccharidosis type I. PMID: 24480078
    8. The alpha-L-iduronidase missense mutation causing L238Q substitution, when paired with a nonsense mutation, is associated with significant, late-onset brain disease. PMID: 24368159
    9. We conclude that this procedure for determining residual IDUA activity in fibroblasts of MPS I patients may be helpful to predict MPS I phenotype. PMID: 23786846
    10. The IDUA structures and biochemical analysis of the disease-relevant P533R mutation have enabled us to correlate the effects of mutations in IDUA to clinical phenotypes. PMID: 24036510
    11. Data show that alpha-l-iduronidase (hIDUA) enzyme activity was highly correlated with the N-glycan attached to N372. PMID: 23959878
    12. X-ray diffraction analysis of human alpha-L-iduronidase PMID: 23143250
    13. Transfer of a high level of human alpha-L-iduronidase gene into the central nervous system (CNS) of MPS I mutant mice susceptible to mucopolysaccharidosis (MPS) improves the outcome for MPS when a high level of CNS gene expression is achieved. PMID: 21397026
    14. A previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+3G>C) causing a Hurler phenotype in a patient heterozygous for the common p.Q70X (NG_008103.1:g.5862C>T) mutation. PMID: 21831683
    15. This paper, showed a heterogeneous pattern of mutations and polymorphisms in the IDUA gene among Tunisian patients. PMID: 21521498
    16. this study characterized the underlying IDUA mutations in a group of 102 newly studied European patients, including 37 Italians, whose condition has been clinically and biochemically diagnosed as MPS I. PMID: 21394825
    17. The identification of two novel alpha-L-iduronidase mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia. PMID: 21639919
    18. study describes monozygotic twins with an attenuated form of mucopolysaccharidosis type I associated with a novel mutation of IDUA, who both showed cervical myelopathy as the initial and cardinal manifestation PMID: 21176924
    19. This study reports a novel mutation in IDUA, expanding the mutational spectrum for mucopolysaccharidosis type I. PMID: 21364962
    20. Studies show that mouse Idua-W392X mutation is analogous to the human IDUA-W402X mutation commonly found in MPS I-H patients. PMID: 19751987
    21. This is the first report of IDUA mutations in Egyptian patients with mucopolysaccharidosis type I. PMID: 19839758
    22. Results show that leukocyte IDUA from mucopolysaccharidosis I heterozygotes differs from the normal enzyme in terms of optimum pH, Km, Vmax and thermostability at 50 degrees C. PMID: 11825626
    23. Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. PMID: 12559846
    24. 6 new mutations, c.1087C>T (p.R363C), c.1804T>A (p.F602I), c.793G>C, c.712T>A (p.L238Q), c.1727+2T>A, & c.1269C>G (p.S423R), in a total of 14 different mutations, & 13 polymorphisms , including the new c.246C>G (p.H82Q), were found in 10 MPS I pts. PMID: 15300847
    25. Model provides insights into why certain point mutations produce misfolded proteins and lead to severe mucopolysaccharidosis I, while other mutations produce proteins with minor structural perturbations and therefore the attenuated form of the disease. PMID: 15862278
    26. analysis of Alpha-L-Iduronidase mutations in Mucopolysaccharidosis I in Tunisia PMID: 16435195
    27. Describe a cohort of 14 Hurler-Scheie patients homozygous for the p.Leu490Pro missense mutation in the alpha-L-iduronidase gene. PMID: 17570076
    28. Analysis of the structural change in alpha-L-iduronidase of the severe mucopolysaccharidosis type I (MPS I) group and that of the attenuated disease, except for a couple of mutations, can help to predict the clinical outcome of MPS I. PMID: 18340403
    29. Mutations in the 130 C-terminal amino acids lead to clinical manifestations of Mucopolysaccharidosis type I , which indicates a functional importance of the C-terminus of the IDUA protein. PMID: 19396826

    顯示更多

    收起更多

  • 相關(guān)疾病:
    Mucopolysaccharidosis 1H (MPS1H); Mucopolysaccharidosis 1H/S (MPS1H/S); Mucopolysaccharidosis 1S (MPS1S)
  • 亞細(xì)胞定位:
    Lysosome.
  • 蛋白家族:
    Glycosyl hydrolase 39 family
  • 組織特異性:
    Ubiquitous.
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 5391

    OMIM: 252800

    KEGG: hsa:3425

    STRING: 9606.ENSP00000247933

    UniGene: Hs.89560



主站蜘蛛池模板: 久久中文字幕人妻熟av女蜜柚m| аⅴ资源中文在线天堂| 人人妻人人澡人人爽欧美二区| 免费又黄又硬又爽大片| 国产麻豆剧传媒精品av| 国内自产少妇自拍区免费| 国产美女爽到喷出水来视频| 天天做天天爱天天要天天| 国产成+人欧美+综合在线观看 | 国产成人无码区免费网站| 男人的天堂av网站| 欧美亚洲国产精品久久蜜芽| 久久男人av资源网站| 午夜亚洲国产理论片二级港台二级| 欧美另类精品xxxx| 亚洲蜜桃v妇女| 国产69精品久久久久999小说| 亚洲色成人www永久网站| 狼色精品人妻在线视频免费| 韩国久久久久久级做爰片| 国产成人精品自在线拍| 国产suv精品一区二区| 久久久精品人妻一区亚美研究所| 无码午夜成人1000部免费视频| 亚洲 综合 欧美在线视频| 最新69成人精品视频免费| 国产亚洲精品在av| 强开小婷嫩苞又嫩又紧视频 | 99精品久久久久中文字幕| 免费精品国产自在| 亚洲精品天堂成人片av在线播放| 日韩国产丝袜人妻一二区| 国产黄在线观看免费观看不卡| 婷婷综合缴情亚洲狠狠| 中文字幕精品一二三四五六七八| 色综合久久网| 久碰久摸久看视频在线观看| 国产人妻高清国产拍精品| 午夜爽爽爽男女免费观看麻豆国产 | 动漫av纯肉无码免费播放| 久久久精品人妻一区二区三区四|