New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones

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Term Occurence Count Dictionary
Krabbe disease 5 endocrinologydiseases
gangliosidosis 5 endocrinologydiseases
leukodystrophy 2 endocrinologydiseases
miglustat 2 endocrinologydiseasesdrugs
sphingolipidosis 1 endocrinologydiseases
GM2 gangliosidosis 1 endocrinologydiseases
Gaucher's disease 5 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
miglustat 9333 characterized by abnormal accumulation of substrate within the lysosomeNB‐DNJN‐butyl deoxynojirimycin; miglustat ; zaveskaAlkylated glucose configured azasugar; ceramide glucosyltransferase and GAA I and II inhibitorPCTPharmacological
miglustat 58865 respective hydrolases, they also have the potential to bind the glycan‐synthesizing enzyme. For example, miglustat (also known as zaveska) is NB‐DNJ, an alkylated glucose analog of DGJ, and is used for the treatment
Select Disease Character Offset Disease Term Instance
GM2 gangliosidosis 17109 ambroxol (ExSAR, Monmouth, NJ) for type I Gaucher's disease (Zimran et al., 2013), and pyrimethamine for GM2 gangliosidosis (Clarke et al., 2011). Although these have provided proof of principle for PCT as a viable treatment
Gaucher's disease 11996 reduction therapy (SRT) is another approach that has shown promise in treating LSDs such as in type I Gaucher's disease (Cox et al., 2000, 2003). By decreasing the synthesis of primary substrate, SRT seeks to target and
Gaucher's disease 17046 Cranbury, NJ) for Fabry's disease (Germain et al., 2012), ambroxol (ExSAR, Monmouth, NJ) for type I Gaucher's disease (Zimran et al., 2013), and pyrimethamine for GM2 gangliosidosis (Clarke et al., 2011). Although these
Gaucher's disease 55954 active‐site‐directed chaperones N‐butyl deoxynojirimycin (NB‐DNJ) and isofagomine used in Pompe's and Gaucher's disease , respectively, showed improvement in stability, lysosomal trafficking, maturation, and intracellular
Gaucher's disease 59042 DGJ, and is used for the treatment of adult patients with mild to moderate type I (nonneuropathic) Gaucher's disease . Miglustat is thought to function primarily as an SRT by inhibiting the glucosylceramide synthase (Cox
Gaucher's disease 60810 diltiazem and verapamil, have been shown to enhance enzyme function in fibroblasts from patients with Gaucher's disease , α‐mannosidosis, and type IIIa MPS (Mu et al., 2008a; Ong et al., 2010). Diltiazem inhibits and stabilizes
Krabbe disease 70 Title: Journal of Neuroscience ResearchNew therapeutic approaches for Krabbe disease : The potential of pharmacological chaperonesAlternative Title: Pharmacological Chaperones for Krabbe
Krabbe disease 589 the lysosomal hydrolase β‐galactocerebrosidase (GALC) account for at least 40% of known cases of Krabbe disease (KD). Most of these missense mutations are predicted to disrupt the fold of the enzyme, preventing GALC
Krabbe disease 2286 2016 The Authors. Journal of Neuroscience Research Published by Wiley Periodicals, Inc.SIGNIFICANCE Krabbe disease (KD) is an inherited neurodegenerative disorder caused by defects in the enzyme β‐galactocerebrosidase
Krabbe disease 2929 the recent research in this area and highlights potential areas for future therapeutic development. Krabbe disease (KD; also known as globoid cell leukodystrophy) is an autosomal recessive sphingolipidosis with a severe
Krabbe disease 8912 substrateIGFIso‐galacto‐fagomine; 4‐epi‐isofagomineNonalkylated azasugar; galactosidase inhibitorKD Krabbe disease ; globoid cell leukodystrophyLysosomal storage disorder caused by deficient β‐galactocerebrosidase;
gangliosidosis 7533 structureβ‐Galβ‐GalactosidaseLysosomal glycoside hydrolase, responsible for the hydrolysis of β‐galactosides; deficient in GM1 gangliosidosis and Morquio B diseaseBBBBlood–brain barrierA highly selective, permeable membrane that provides a
gangliosidosis 17113 (ExSAR, Monmouth, NJ) for type I Gaucher's disease (Zimran et al., 2013), and pyrimethamine for GM2 gangliosidosis (Clarke et al., 2011). Although these have provided proof of principle for PCT as a viable treatment
gangliosidosis 26348 N‐ocytl‐4‐epi‐b‐valienamine (NOEV; Fig. 3), a potent β‐gal inhibitor and potential chaperone therapeutic for GM1‐ gangliosidosis (Suzuki et al., 2007). Hossain et al. (2015) tested NOEV as a candidate chaperone for mutant GALC, with
gangliosidosis 28525 advantage than high‐affinity binding alone. Although NOEV has been identified as a chaperone for GM1‐ gangliosidosis , Hossain et al. (2015) did not directly compare the potency of NOEV as a chaperone for GALC with the
gangliosidosis 28682 compare the potency of NOEV as a chaperone for GALC with the lysosomal β‐gal responsible for GM1‐ gangliosidosis and, as such, the specificity for use as a Krabbe therapeutic remains unclear.Allosteric ChaperonesTo
leukodystrophy 2976 highlights potential areas for future therapeutic development.Krabbe disease (KD; also known as globoid cell leukodystrophy ) is an autosomal recessive sphingolipidosis with a severe and progressive neurodegenerative disease
leukodystrophy 8941 substrateIGFIso‐galacto‐fagomine; 4‐epi‐isofagomineNonalkylated azasugar; galactosidase inhibitorKDKrabbe disease; globoid cell leukodystrophy Lysosomal storage disorder caused by deficient β‐galactocerebrosidase; characterized by a progressive
sphingolipidosis 3018 development.Krabbe disease (KD; also known as globoid cell leukodystrophy) is an autosomal recessive sphingolipidosis with a severe and progressive neurodegenerative disease course caused by deficiencies in the lysosomal

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