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METHOD TO PREDICT RESPONSE TO PHARMACOLOGICAL CHAPERONE TREATMENT OF DISEASES
- 专利权人:
- Inc.;Amicus Therapeutics
- 发明人:
- Wustman, Brandon,Benjamin, Elfrida,Wu, Xiaoyang,Flanagan, John,Do, Hung V.
- 申请号：
- AU2017268649
- 公开号：
- AU2017268649A1
- 申请日:
- 2017.11.30
- 申请国别(地区):
- AU
- 年份:
- 2018
- 代理人:
- 摘要：
- #$%^&*AU2017268649A120180104.pdf#####The present invention provides methods to determine whether a patient with a lysosomal storage disorder will benefit from treatment with a specific pharmacological chaperone. The present invention exemplifies an in vitro method for determining a-galactosidase A responsiveness to a pharmacological chaperone such as 1 -deoxygalactonojirimycin in a cell line expressing a mutant from of a-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.Fig. 1A 1/36 Fabry Mutations Generated by Site-Directed Mutagenesis Milseense L45R W2R R112H G147R G183S R227P D264V A285P Q312R R356G P409S V390frX8 4011nsiaafi M1l H46L W2V R1128 S148N G183V R227Q 0264Y W287C D313G R356W P409T 401S MIK H46R A73V 'F113L S148R Y184C A230T P265L W287G D313Y Q357X T410OA deI20-24aa MIL H46Y W6R F113S Y152C M187T D231G P265R A288D V316E E358A T4101 del13-Oaa MIR W47G W6T 1117S DIS5H M187V D231N D266E A288P B17N E358G T410K del153aa MIT W47L W81C R118C A156T L191P D231V D266H 1289F 1317T E358K T410P del205-7aa MIV E48D W81S L120P A156V L191Q D234E D266N 1289S N3201 059T G411D del254aa A13P 548K G85D L120S A156Y T1941 0234Y D266V M2901 N320K G360C L414S dei358aa L14P R49C G85M A121P WjG2C V199M S235C D266Y A291T N320Y G360D L415P ins247-8aa L16H R49G Y86C A121T W162G S201F S235F M2671 A292P Q321E G360S L33Y L16P R49L Y860 V124D W162R -S201Y W236C M267R A292T Q321L G361R L166G F18S R49P Y88D H125P G163V C202W W236L L268S P293A 0321R P362L H46S L19P R49S L89P S126G D165H C202Y W236R V269A P293H G325D R363C 1124F A20P F50C LO9R G128E D165V P205L S238N V269M P293S G325S R363H A31V M5ll C90R L129P D165Y P205R 1239T 1270T P293T 0327E R363P L32P M5IK 191T L131P DISY P205S 1242F G271C F295C Q327K L372P Complex D33Y C52G D92G G132E L166V P205T 1242N G271S W2961 G328A L372R D55V/Q57L L120PIA121 N34K C52R D92H G132R L167P L206P L243F G271V M296V G3
- 来源网站：
- 中国工程科技知识中心
- 来源网址：
- http://www.ckcest.cn/home/
