Research graph
References from Sinbaglustat is efficacious in GM2 gangliosidosis primarily through inhibition of GBA2 rather than GCS. Local targets link to admitted publications; unresolved targets remain external evidence.
Identification of potent and selective glucosylceramide synthase inhibitors from a library of N-alkylated iminosugars
10.1021/ml100192b · 2011 · External reference
Assessment of Target Engagement in a First-in-Human Trial with Sinbaglustat, an Iminosugar to Treat Lysosomal Storage Disorders
10.1111/cts.12911 · 2021 · External reference
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
10.3390/ijms18020441 · 2017 · External reference
Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity
10.1016/j.ymthe.2019.05.018 · 2019 · External reference
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin
10.1126/science.276.5311.428 · 1997 · External reference
Venglustat in GM2 Gangliosidoses and Related Disorders: Results of the AMETHIST Randomized Controlled and Basket Trials
2025 · External reference
Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice
10.1371/journal.pone.0135889 · 2015 · External reference
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
10.1073/pnas.1400768111 · 2014 · External reference
Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease
10.1016/j.nbd.2019.03.005 · 2019 · External reference
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin
10.1073/pnas.96.11.6388 · 1999 · External reference
Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease
10.1016/j.nbd.2004.04.012 · 2004 · External reference
Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease
10.1371/journal.pone.0021758 · 2011 · External reference
AZ-3102 significantly increases survival and decreases neuroinflammation in a mouse model of Sandhoff disease
10.1016/j.ymgme.2022.107193 · 2023 · External reference
Genetics and Therapies for GM2 Gangliosidosis
10.2174/1566523218666180404162622 · 2018 · External reference
Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease
10.1007/s11745-008-3268-0 · 2009 · External reference
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation
10.1073/pnas.97.20.10954 · 2000 · External reference
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
10.1186/s13023-018-0876-5 · 2018 · External reference
The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy
2016 · External reference
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review
10.1111/ene.15871 · 2023 · External reference
Infantile gangliosidoses: Mapping a timeline of clinical changes
10.1016/j.ymgme.2017.04.011 · 2017 · External reference
Unresolved reference
External reference
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism
10.1038/ng1095-170 · 1995 · External reference
Molecular cloning and expression of human bile acid beta-glucosidase
10.1074/jbc.m104290200 · 2001 · External reference
Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility
10.1172/jci29224 · 2006 · External reference
Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2
10.1007/s11064-015-1763-2 · 2016 · External reference
Early deficits in motor coordination and cognitive dysfunction in a mouse model of the neurodegenerative lysosomal storage disorder, Sandhoff disease
10.1016/j.bbr.2008.06.016 · 2008 · External reference
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types
10.1093/hmg/ddy248 · 2018 · External reference
Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice
10.1016/j.ymgme.2012.01.020 · 2012 · External reference
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients
2022 · External reference
Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella
10.3390/ijms21155368 · 2020 · External reference
Reversibility of neuropathology in Tay–Sachs-related diseases
10.1093/hmg/ddt459 · 2014 · External reference
Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases
10.1002/1873-3468.12104 · 2016 · External reference
Sinbaglustat ameliorates disease pathology in a murine model of GM1 gangliosidosis without affecting CNS ganglioside levels
10.1016/j.nbd.2025.106917 · 2025 · External reference
Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation
10.1093/nar/gks042 · 2012 · External reference
edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
10.1093/bioinformatics/btp616 · 2010 · External reference
hypeR: an R package for geneset enrichment workflows
10.1093/bioinformatics/btz700 · 2020 · External reference
Molecular signatures database (MSigDB) 3.0
10.1093/bioinformatics/btr260 · 2011 · External reference
Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles
10.1073/pnas.0506580102 · 2005 · External reference
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV
10.1016/j.nbd.2017.06.003 · 2017 · External reference
Spontaneous object recognition and object location memory in rats: the effects of lesions in the cingulate cortices, the medial prefrontal cortex, the cingulum bundle and the fornix
10.1007/pl00005603 · 1997 · External reference
A new one-trial test for neurobiological studies of memory in rats. III. Spatial vs. non-spatial working memory
10.1016/s0166-4328(05)80315-8 · 1992 · External reference
