Target Information
| Target General Infomation | |||||
|---|---|---|---|---|---|
| Target ID |
T31514
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| Former ID |
TTDC00023
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| Target Name |
Lysosomal alpha-glucosidase
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| Gene Name |
GAA
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| Synonyms |
Acid maltase; Aglucosidase alfa; GAA
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| Target Type |
Clinical Trial
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| Disease | Pompe's disease [ICD10: E74.02] | ||||
| Function |
Essential for the degradation of glygogen to glucose in lysosomes.
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| BioChemical Class |
Glycosylases
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| Target Validation |
T31514
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| UniProt ID | |||||
| EC Number |
EC 3.2.1.20
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| Sequence |
MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGA
SRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGA QMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLH FTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLF FADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLA LEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGY PFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDG FRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKV WPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELEN PPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISR STFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVR WTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAG ETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPV EALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQP MALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQ LQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC |
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| Drugs and Mode of Action | |||||
| Drug(s) | BMN-701 | Drug Info | Phase 3 | Pompe's disease | [1] |
| Deoxynojirimycin | Drug Info | Phase 3 | Pompe's disease | [2] | |
| SALACINOL | Drug Info | Phase 1/2 | Discovery agent | [3] | |
| GZ402666 | Drug Info | Phase 1 | Pompe's disease | [4] | |
| Inhibitor | (-)-uniflorine A | Drug Info | [5] | ||
| (R)-2,6-Bis-hydroxymethyl-piperidine-3,4,5-triol | Drug Info | [6] | |||
| 2,5-imino-2,5,6-trideoxy-D-manno-heptitol | Drug Info | [7] | |||
| 7-O-b-D-Glucopyranosyl-a-homonojirimycin | Drug Info | [8] | |||
| Alpha-7-Deoxyhomonojirimycin | Drug Info | [9] | |||
| Alpha-Homonojirimycin | Drug Info | [8] | |||
| Deoxynojirimycin | Drug Info | [8] | |||
| N-adamantanemethyloxypentyl-1-deoxynojirimycin | Drug Info | [10] | |||
| SALACINOL | Drug Info | [11] | |||
| UNIFLORINE B | Drug Info | [5] | |||
| VALIOLAMINE | Drug Info | [8] | |||
| Modulator | BMN-701 | Drug Info | [4], [12] | ||
| GZ402666 | Drug Info | [4] | |||
| Pathways | |||||
| KEGG Pathway | Galactose metabolism | ||||
| Starch and sucrose metabolism | |||||
| Metabolic pathways | |||||
| Lysosome | |||||
| Pathway Interaction Database | Notch-mediated HES/HEY network | ||||
| PathWhiz Pathway | Galactose Metabolism | ||||
| References | |||||
| REF 1 | ClinicalTrials.gov (NCT01924845) BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study). U.S. National Institutes of Health. | ||||
| REF 2 | The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat. 2009 Dec;30(12):1683-92. | ||||
| REF 3 | ClinicalTrials.gov (NCT00306072) Effect of Different Doses of Salacinol Extract on Glycemic and Insulinemic Response in Patients With Type 2 Diabetes. U.S. National Institutes of Health. | ||||
| REF 4 | ClinicalTrials.gov (NCT01898364) Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.. U.S. National Institutes of Health. | ||||
| REF 5 | J Nat Prod. 2009 Nov;72(11):2058-60.Total synthesis of (-)-uniflorine A. | ||||
| REF 6 | J Med Chem. 1998 Jul 2;41(14):2565-71.Homonojirimycin isomers and N-alkylated homonojirimycins: structural and conformational basis of inhibition of glycosidases. | ||||
| REF 7 | J Nat Prod. 1998 May;61(5):625-8.Nitrogen-containing furanose and pyranose analogues from Hyacinthus orientalis. | ||||
| REF 8 | Bioorg Med Chem. 2008 Aug 1;16(15):7330-6. Epub 2008 Jun 18.In vitro inhibition of glycogen-degrading enzymes and glycosidases by six-membered sugar mimics and their evaluation in cell cultures. | ||||
| REF 9 | J Nat Prod. 2002 Dec;65(12):1875-81.New polyhydroxylated pyrrolidine, piperidine, and pyrrolizidine alkaloids from Scilla sibirica. | ||||
| REF 10 | Bioorg Med Chem Lett. 2009 Dec 1;19(23):6600-3. Epub 2009 Oct 8.Synthesis and evaluation of D-gluco-pyranocyclopropyl amines as potential glucosidase inhibitors. | ||||
| REF 11 | J Nat Prod. 2008 Jun;71(6):981-4. Epub 2008 Jun 12.Alpha-glucosidase inhibitor from Kothala-himbutu (Salacia reticulata WIGHT). | ||||
| REF 12 | Clinical pipeline report, company report or official report of BioMarin Pharma. | ||||
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