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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：
- AU2019219727
- 公开号：
- AU2019219727A1
- 申请日:
- 2019.08.20
- 申请国别(地区):
- AU
- 年份:
- 2019
- 代理人:
- 摘要：
- #$%^&*AU2019219727A120190912.pdf#####ABSTRACT 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 Mlssense L45R M72R RI12H G147R G183S R227P D264V A2865P 0312R R356G P409S V390frX8 401inslaa M1l H46L M72V R112S S148N G183V R227Q 0264Y W287C D313G R356W P409T 4016 MIK H46R A73V 'F113L S148R Y184C A230T P265L W287G D313Y 0357X T410A de20-24as M1L H46Y M76R F1133 Y152C M187T D231G P265R A288D V316E E358A T4101 del13-8aa MIR W47G M76T 1117S DISSH M187V 0231N D266E A288P B17N E358G T410K del153aa MIT W47L W1C R118C A156T L191P D231V D266H 1289F 017T E358K T410P deI205-7aa MiV E48D W81S L120P A156V L191Q D234E D266N 1289S N3201 O5T G411D de/254aa A13P E48K G85D L120S A156Y T1941 D234Y D266V M2901 N320K G360C L414S del358aa L14P R49C G85M A121P M62C V199M S235C 0266Y A291T N320Y G360D L41§P ins247-8ea L16H R49G Y6C_ A121T W162G S201F S236F 12671 A292P Q321E G360S L33Y L16P R49L Y86D V124D W162R S201Y W236C M267R A292T 0321L G361R L166G FIBS R49P Y86D H126P G163V C202W W236L L268S P293A Q321R P362L H46S L19P R49S L89P S126G 0165H C202Y W236R V269A P293H G325D R363C 1124F A20P F60C LS9R G128E D16V R205L S238N V269M P293S G325S R363H A31V M511 C0R L129P D165Y P205R 1239T 1270T P293T Q327E R363P L32P M51K 191T L131P D156Y P205S 1242 G271C F295C O37 L372P Complex D33Y C52G D92G G132E L166V P205T 1242N G271S M2961 G328A L372R D55V/Q57L L120PIA121 N34K C52R D92H G132R L167P L206P L243F G271V M296V
- 来源网站：
- 中国工程科技知识中心
- 来源网址：
- http://www.ckcest.cn/home/
