Target Information

Target General Infomation
Target ID
T31514
Former ID
TTDC00023
Target Name
Lysosomal alpha-glucosidase
Gene Name
GAA
Synonyms
Acid maltase; Aglucosidase alfa; GAA
Target Type
Clinical Trial
Disease Pompe's disease [ICD10: E74.02]
Function
Essential for the degradation of glygogen to glucose in lysosomes.
BioChemical Class
Glycosylases
Target Validation
T31514
UniProt ID
P10253
EC Number
EC 3.2.1.20
Sequence
MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGA
SRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGA
QMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLH
FTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLF
FADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLA
LEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGY
PFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDG
FRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKV
WPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELEN
PPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISR
STFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVR
WTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAG
ETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPV
EALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQP
MALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQ
LQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC
Drugs and Mode of Action
Drug(s) BMN-701 Drug Info Phase 3 Pompe's disease [524401]
Deoxynojirimycin Drug Info Phase 3 Pompe's disease [530482]
SALACINOL Drug Info Phase 1/2 Discovery agent [521814]
GZ402666 Drug Info Phase 1 Pompe's disease [524362]
Inhibitor (-)-uniflorine A Drug Info [530453]
(R)-2,6-Bis-hydroxymethyl-piperidine-3,4,5-triol Drug Info [534661]
2,5-imino-2,5,6-trideoxy-D-manno-heptitol Drug Info [534633]
7-O-b-D-Glucopyranosyl-a-homonojirimycin Drug Info [529573]
Alpha-7-Deoxyhomonojirimycin Drug Info [526494]
Alpha-Homonojirimycin Drug Info [529573]
Deoxynojirimycin Drug Info [529573]
N-adamantanemethyloxypentyl-1-deoxynojirimycin Drug Info [530471]
SALACINOL Drug Info [529528]
UNIFLORINE B Drug Info [530453]
VALIOLAMINE Drug Info [529573]
Modulator BMN-701 Drug Info [524362], [551880]
GZ402666 Drug Info [524362]
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 521814ClinicalTrials.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 524362ClinicalTrials.gov (NCT01898364) Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.. U.S. National Institutes of Health.
Ref 524401ClinicalTrials.gov (NCT01924845) BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study). U.S. National Institutes of Health.
Ref 530482The 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 524362ClinicalTrials.gov (NCT01898364) Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.. U.S. National Institutes of Health.
Ref 526494J Nat Prod. 2002 Dec;65(12):1875-81.New polyhydroxylated pyrrolidine, piperidine, and pyrrolizidine alkaloids from Scilla sibirica.
Ref 529528J Nat Prod. 2008 Jun;71(6):981-4. Epub 2008 Jun 12.Alpha-glucosidase inhibitor from Kothala-himbutu (Salacia reticulata WIGHT).
Ref 529573Bioorg 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 530453J Nat Prod. 2009 Nov;72(11):2058-60.Total synthesis of (-)-uniflorine A.
Ref 530471Bioorg 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 534633J Nat Prod. 1998 May;61(5):625-8.Nitrogen-containing furanose and pyranose analogues from Hyacinthus orientalis.
Ref 534661J Med Chem. 1998 Jul 2;41(14):2565-71.Homonojirimycin isomers and N-alkylated homonojirimycins: structural and conformational basis of inhibition of glycosidases.
Ref 551880Clinical pipeline report, company report or official report of BioMarin Pharma.

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