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GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies

https://doi.org/10.3390/ijms21176213
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Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses
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Hematopoietic stem cell transplantation for Gaucher disease
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Mechanisms of radial glia progenitor cell lineage progression
inferredcites →https://doi.org/10.1002/1873-3468.13114openalex-snapshot
Emerging concepts of ganglioside metabolism
inferredcites →https://doi.org/10.1002/9781118978320.ch15openalex-snapshot
Pharmacological Chaperones as Potential Therapeutics for Lysosomal Storage Disorders: Preclinical Research to Clinical Studies
inferredcites →https://doi.org/10.1002/ana.22262openalex-snapshot
Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis
inferredcites →https://doi.org/10.1002/ana.25689openalex-snapshot
Natural History of Adult Patients with GM2 Gangliosidosis
inferredcites →https://doi.org/10.1002/bit.25289openalex-snapshot
Insulin receptor antibody‐iduronate 2‐sulfatase fusion protein: Pharmacokinetics, anti‐drug antibody, and safety pharmacology in Rhesus monkeys
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Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development
inferredcites →https://doi.org/10.1002/jcp.27972openalex-snapshot
CRISPR/Cas9 technology as a potent molecular tool for gene therapy
inferredcites →https://doi.org/10.1002/jimd.12093openalex-snapshot
Exploiting epigenetics for the treatment of inborn errors of metabolism
inferredcites →https://doi.org/10.1007/978-1-4939-8552-4_2openalex-snapshot
Gangliosides of the Nervous System
inferredcites →https://doi.org/10.1007/978-1-4939-8889-1_16openalex-snapshot
Prenatal Diagnosis of Tay-Sachs Disease
inferredcites →https://doi.org/10.1007/978-94-011-9749-6openalex-snapshot
Journal of Inherited Metabolic Disease
inferredcites →https://doi.org/10.1007/bf00208283openalex-snapshot
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection
inferredcites →https://doi.org/10.1007/bf00219337openalex-snapshot
Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease
inferredcites →https://doi.org/10.1007/bf00691417openalex-snapshot
The white matter in $${\text{G}}_{{\text{M}}_{\text{2}} } $$ gangliosidosis
inferredcites →https://doi.org/10.1007/bf01799828openalex-snapshot
Reversal of clinical features of hurler's disease and biochemical improvement after treatment by bone marrow transplantation
inferredcites →https://doi.org/10.1007/s00109-018-1703-0openalex-snapshot
Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease
inferredcites →https://doi.org/10.1007/s00109-020-01935-6openalex-snapshot
Lysosomal storage diseases: current therapies and future alternatives
inferredcites →https://doi.org/10.1007/s00428-018-2501-3openalex-snapshot
HLA testing in the molecular diagnostic laboratory
inferredcites →https://doi.org/10.1007/s00439-017-1779-6openalex-snapshot
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
inferredcites →https://doi.org/10.1007/s10545-010-9186-3openalex-snapshot
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3‐year follow‐up
inferredcites →https://doi.org/10.1007/s11064-013-0992-5openalex-snapshot
Ethylenedioxy-PIP2 Oxalate Reduces Ganglioside Storage in Juvenile Sandhoff Disease Mice
inferredcites →https://doi.org/10.1007/s12035-013-8605-5openalex-snapshot
Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts
inferredcites →https://doi.org/10.1007/s12035-015-9136-zopenalex-snapshot
GM1 Ganglioside: Past Studies and Future Potential
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Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments
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Isolation of a cDNA encoding the human GM2 activator protein
inferredcites →https://doi.org/10.1016/bs.accb.2018.09.002openalex-snapshot
The Biology of Gangliosides
inferredcites →https://doi.org/10.1016/bs.pmbts.2017.10.003openalex-snapshot
Gangliosides in Cancer Cell Signaling
inferredcites →https://doi.org/10.1016/bs.pmbts.2017.12.007openalex-snapshot
Gangliosides in Membrane Organization
inferredcites →https://doi.org/10.1016/bs.pmbts.2018.03.001openalex-snapshot
Gangliosides in Axon Stability and Regeneration
inferredcites →https://doi.org/10.1016/j.bbagen.2007.10.008openalex-snapshot
Functional role of glycosphingolipids and gangliosides in control of cell adhesion, motility, and growth, through glycosynaptic microdomains
inferredcites →https://doi.org/10.1016/j.bbamcr.2008.10.016openalex-snapshot
Sorting of lysosomal proteins
inferredcites →https://doi.org/10.1016/j.bbamcr.2018.10.014openalex-snapshot
Neurite atrophy and apoptosis mediated by PERK signaling after accumulation of GM2-ganglioside
inferredcites →https://doi.org/10.1016/j.bbapap.2006.08.012openalex-snapshot
Small molecule pharmacological chaperones: From thermodynamic stabilization to pharmaceutical drugs
inferredcites →https://doi.org/10.1016/j.carres.2016.03.007openalex-snapshot
Investigation of original multivalent iminosugars as pharmacological chaperones for the treatment of Gaucher disease
inferredcites →https://doi.org/10.1016/j.cell.2010.02.016openalex-snapshot
Mechanisms Underlying Inflammation in Neurodegeneration
inferredcites →https://doi.org/10.1016/j.clinthera.2005.08.004openalex-snapshot
An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment
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Engineering the AAV capsid to evade immune responses
inferredcites →https://doi.org/10.1016/j.ebiom.2016.10.010openalex-snapshot
Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease
inferredcites →https://doi.org/10.1016/j.expneurol.2017.09.012openalex-snapshot
Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease
inferredcites →https://doi.org/10.1016/j.febslet.2005.08.081openalex-snapshot
Identification of plasma membrane associated mature β‐hexosaminidase A, active towards GM2 ganglioside, in human fibroblasts
inferredcites →https://doi.org/10.1016/j.gene.2012.06.080openalex-snapshot
GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients
inferredcites →https://doi.org/10.1016/j.hemonc.2019.08.002openalex-snapshot
Worldwide Network for Blood and Marrow Transplantation (WBMT) recommendations for establishing a hematopoietic stem cell transplantation program in countries with limited resources (Part II)
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Reactive Astrocytes: Production, Function, and Therapeutic Potential
inferredcites →https://doi.org/10.1016/j.jmb.2006.04.004openalex-snapshot
Crystallographic Structure of Human β-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of GM2 Ganglioside Hydrolysis
inferredcites →https://doi.org/10.1016/j.jmb.2020.02.033openalex-snapshot
Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases
inferredcites →https://doi.org/10.1016/j.nbd.2005.04.017openalex-snapshot
Bicistronic lentiviral vector corrects β-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts
inferredcites →https://doi.org/10.1016/j.nbd.2018.07.014openalex-snapshot
Inhibition of astrocytic adenosine receptor A2A attenuates microglial activation in a mouse model of Sandhoff disease
inferredcites →https://doi.org/10.1016/j.nbd.2019.104667openalex-snapshot
Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis
inferredcites →https://doi.org/10.1016/j.neulet.2019.134317openalex-snapshot
Microglial clearance of focal apoptotic synapses
inferredcites →https://doi.org/10.1016/j.neuroscience.2016.10.047openalex-snapshot
AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease
inferredcites →https://doi.org/10.1016/j.omtm.2018.10.011openalex-snapshot
Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model
inferredcites →https://doi.org/10.1016/j.pediatrneurol.2010.02.007openalex-snapshot
Infantile Sandhoff's Disease With Peripheral Neuropathy
inferredcites →https://doi.org/10.1016/j.semcdb.2019.03.002openalex-snapshot
Brain organoids as a model system for human neurodevelopment and disease
inferredcites →https://doi.org/10.1016/j.tibtech.2018.03.004openalex-snapshot
Strategies for In Vivo Genome Editing in Nondividing Cells
inferredcites →https://doi.org/10.1016/j.ymgme.2008.02.005openalex-snapshot
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis
inferredcites →https://doi.org/10.1016/j.ymgme.2008.04.006openalex-snapshot
Structural consequences of amino acid substitutions causing Tay–Sachs disease
inferredcites →https://doi.org/10.1016/j.ymgme.2009.06.005openalex-snapshot
Substrate reduction therapy in juvenile GM2 gangliosidosis
inferredcites →https://doi.org/10.1016/j.ymgme.2010.09.004openalex-snapshot
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)
inferredcites →https://doi.org/10.1016/j.ymgme.2015.03.002openalex-snapshot
Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice
inferredcites →https://doi.org/10.1016/j.ymgme.2015.06.001openalex-snapshot
Human recombinant lysosomal enzymes produced in microorganisms
inferredcites →https://doi.org/10.1016/j.ymgme.2015.12.170openalex-snapshot
Cell uptake evaluation of human recombinant lysosomal enzymes produced in Pichia pastoris
inferredcites →https://doi.org/10.1016/j.ymgme.2017.07.012openalex-snapshot
The role of epigenetics in lysosomal storage disorders: Uncharted territory
inferredcites →https://doi.org/10.1016/j.ymgme.2017.12.434openalex-snapshot
Gene therapy for Mucopolysaccharidoses
inferredcites →https://doi.org/10.1016/j.ymgme.2019.11.347openalex-snapshot
Recombinant hexosaminidases conjugated to magnetite nanoparticles: Alternative therapeutic treatment routes in GM2 fibroblasts
inferredcites →https://doi.org/10.1016/j.ymgmr.2017.01.017openalex-snapshot
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene
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Hematopoietic Stem Cell Gene Therapy for Storage Disease: Current and New Indications
inferredcites →https://doi.org/10.1016/j.ymthe.2019.01.014openalex-snapshot
Genome Editing with mRNA Encoding ZFN, TALEN, and Cas9
inferredcites →https://doi.org/10.1016/j.ymthe.2020.06.021openalex-snapshot
Pronounced Therapeutic Benefit of a Single Bidirectional AAV Vector Administered Systemically in Sandhoff Mice
inferredcites →https://doi.org/10.1016/s0021-9258(17)37202-2openalex-snapshot
N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.
inferredcites →https://doi.org/10.1016/s0021-9258(17)43301-1openalex-snapshot
Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts.
inferredcites →https://doi.org/10.1016/s0021-9258(18)45628-1openalex-snapshot
Organization of the gene encoding the human beta-hexosaminidase alpha-chain.
inferredcites →https://doi.org/10.1016/s0021-9258(18)68923-9openalex-snapshot
Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.
inferredcites →https://doi.org/10.1016/s0021-9258(18)94077-9openalex-snapshot
Proteolytic Processing of the β-Subunit of the Lysosomal Enzyme, β-Hexosaminidase, in Normal Human Fibroblasts
inferredcites →https://doi.org/10.1016/s0021-9258(19)50196-xopenalex-snapshot
Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis.
inferredcites →https://doi.org/10.1016/s0021-9258(19)62034-xopenalex-snapshot
Cloned beta 1,4 N-acetylgalactosaminyltransferase synthesizes GA2 as well as gangliosides GM2 and GD2. GM3 synthesis has priority over GA2 synthesis for utilization of lactosylceramide substrate in vivo.
inferredcites →https://doi.org/10.1016/s0021-9258(19)85586-2openalex-snapshot
Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues.
inferredcites →https://doi.org/10.1016/s0022-2836(03)00311-5openalex-snapshot
The X-ray Crystal Structure of Human β-Hexosaminidase B Provides New Insights into Sandhoff Disease
inferredcites →https://doi.org/10.1016/s0140-6736(81)91046-1openalex-snapshot
REVERSAL OF CLINICAL FEATURES OF HURLER'S DISEASE AND BIOCHEMICAL IMPROVEMENT AFTER TREATMENT BY BONE-MARROW TRANSPLANTATION
inferredcites →https://doi.org/10.1016/s0925-4439(99)00074-5openalex-snapshot
Biochemical consequences of mutations causing the GM2 gangliosidoses
inferredcites →https://doi.org/10.1016/s0960-9822(01)00396-7openalex-snapshot
Critical role for glycosphingolipids in Niemann-Pick disease type C
inferredcites →https://doi.org/10.1016/s2352-4642(17)30087-1openalex-snapshot
Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS
inferredcites →https://doi.org/10.1021/acs.molpharmaceut.6b00037openalex-snapshot
Insulin Receptor Antibody−α-N-Acetylglucosaminidase Fusion Protein Penetrates the Primate Blood–Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type B Fibroblasts
inferredcites →https://doi.org/10.1021/bi00414a041openalex-snapshot
Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human .beta.-hexosaminidase
inferredcites →https://doi.org/10.1021/jm101443uopenalex-snapshot
Crystal Structure of β-Hexosaminidase B in Complex with Pyrimethamine, a Potential Pharmacological Chaperone
inferredcites →https://doi.org/10.1021/jm301557kopenalex-snapshot
Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases
inferredcites →https://doi.org/10.1021/mp500258popenalex-snapshot
Insulin Receptor Antibody–Sulfamidase Fusion Protein Penetrates the Primate Blood–Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type A Cells
inferredcites →https://doi.org/10.1038/d41586-019-03164-5openalex-snapshot
Super-precise new CRISPR tool could tackle a plethora of genetic diseases
inferredcites →https://doi.org/10.1038/gt.2014.108openalex-snapshot
Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease
inferredcites →https://doi.org/10.1038/hgv.2018.3openalex-snapshot
Identification of mutations in HEXA and HEXB in Sandhoff and Tay-Sachs diseases: a new large deletion caused by Alu elements in HEXA
inferredcites →https://doi.org/10.1038/mt.2010.113openalex-snapshot
Introduction of an N-Glycan Sequon Into HEXA Enhances Human β-Hexosaminidase Cellular Uptake in a Model of Sandhoff Disease
inferredcites →https://doi.org/10.1038/mt.2010.250openalex-snapshot
The Complex and Evolving Story of T cell Activation to AAV Vector-encoded Transgene Products
inferredcites →https://doi.org/10.1038/mt.2011.27openalex-snapshot
Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis
inferredcites →https://doi.org/10.1038/mt.2012.44openalex-snapshot
Gene Transfer Corrects Acute GM2 Gangliosidosis—Potential Therapeutic Contribution of Perivascular Enzyme Flow
inferredcites →https://doi.org/10.1038/mt.2013.86openalex-snapshot
Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy
inferredcites →https://doi.org/10.1038/mt.2016.38openalex-snapshot
Gene Insertion Into Genomic Safe Harbors for Human Gene Therapy
inferredcites →https://doi.org/10.1038/mtm.2015.57openalex-snapshot
Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo
inferredcites →https://doi.org/10.1038/nature02265openalex-snapshot
Therapeutic approaches to protein-misfolding diseases
inferredcites →https://doi.org/10.1038/nrm2745openalex-snapshot
Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function
inferredcites →https://doi.org/10.1038/s10038-018-0537-5openalex-snapshot
Gene therapy for lysosomal storage diseases and peroxisomal diseases
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Lysosome biology in autophagy
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A novel gene editing system to treat both Tay–Sachs and Sandhoff diseases
inferredcites →https://doi.org/10.1038/s41586-019-1711-4openalex-snapshot
Search-and-replace genome editing without double-strand breaks or donor DNA
inferredcites →https://doi.org/10.1038/s41587-019-0016-3openalex-snapshot
Hypoimmunogenic derivatives of induced pluripotent stem cells evade immune rejection in fully immunocompetent allogeneic recipients
inferredcites →https://doi.org/10.1038/s41598-019-55136-4openalex-snapshot
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery
inferredcites →https://doi.org/10.1038/sj.bmt.1705155openalex-snapshot
Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease
inferredcites →https://doi.org/10.1038/srep40518openalex-snapshot
FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice
inferredcites →https://doi.org/10.1038/srep41269openalex-snapshot
Restoring GM1 ganglioside expression ameliorates axonal outgrowth inhibition and cognitive impairments induced by blast traumatic brain injury
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In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay–Sachs disease
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Human exonuclease 1 (EXO1) activity characterization and its function on flap structures
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Cardiac involvement in infantile Sandhoff disease
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Phagocytic Clearance of Apoptotic Neurons by Microglia/Brain Macrophages In Vitro
inferredcites →https://doi.org/10.1056/nejmoa1712649openalex-snapshot
Study of Intraventricular Cerliponase Alfa for CLN2 Disease
inferredcites →https://doi.org/10.1073/pnas.1902566116openalex-snapshot
Generation of hypoimmunogenic human pluripotent stem cells
inferredcites →https://doi.org/10.1073/pnas.96.11.6388openalex-snapshot
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N -butyldeoxynojirimycin
inferredcites →https://doi.org/10.1073/pnas.97.20.10954openalex-snapshot
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation
inferredcites →https://doi.org/10.1074/jbc.m112.350447openalex-snapshot
Hyaluronidase 1 and β-Hexosaminidase Have Redundant Functions in Hyaluronan and Chondroitin Sulfate Degradation
inferredcites →https://doi.org/10.1074/jbc.m609304200openalex-snapshot
Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis
inferredcites →https://doi.org/10.1074/jbc.tm118.003212openalex-snapshot
Introduction to the Thematic Minireview Series: DNA double-strand break repair and pathway choice
inferredcites →https://doi.org/10.1089/hum.2016.015openalex-snapshot
Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects G M2 Gangliosidosis in Sandhoff Mice
inferredcites →https://doi.org/10.1089/hum.2016.109openalex-snapshot
Direct Intracranial Injection of AAVrh8 Encoding Monkey β-N-Acetylhexosaminidase Causes Neurotoxicity in the Primate Brain
inferredcites →https://doi.org/10.1089/hum.2017.163openalex-snapshot
Adeno-Associated Virus Gene Therapy in a Sheep Model of Tay–Sachs Disease
inferredcites →https://doi.org/10.1093/brain/awg089openalex-snapshot
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis
inferredcites →https://doi.org/10.1093/hmg/6.11.1879openalex-snapshot
Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases
inferredcites →https://doi.org/10.1093/hmg/ddr364openalex-snapshot
Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain
inferredcites →https://doi.org/10.1093/hmg/ddv457openalex-snapshot
Gene therapy for lysosomal storage disorders: a good start
inferredcites →https://doi.org/10.1093/oxfordjournals.jbchem.a135030openalex-snapshot
Ganglioside Pattern of Normal Human Brain, from Samples Obtained at Surgery. A Study Especially Referred to Alkali Labile Species
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Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients
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Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment
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Substrate reduction therapy in mouse models of the glycosphingolipidoses
inferredcites →https://doi.org/10.1111/j.1432-1033.2003.03964.xopenalex-snapshot
Photoaffinity labelling of the Human GM2‐activator protein
inferredcites →https://doi.org/10.1111/j.1471-4159.2007.04983.xopenalex-snapshot
An exposed carboxyl group on sialic acid is essential for gangliosides to inhibit calcium uptake via the sarco/endoplasmic reticulum Ca2+‐ATPase: relevance to gangliosidoses
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Substrate reduction therapy
inferredcites →https://doi.org/10.1111/jnc.14632openalex-snapshot
The role of innate immunity in mucopolysaccharide diseases
inferredcites →https://doi.org/10.11144/javeriana.sc21-3.corhopenalex-snapshot
Characterization of recombinant human lysosomal beta-hexosaminidases produced in the methylotrophic yeast Pichia pastoris
inferredcites →https://doi.org/10.1124/dmd.112.046375openalex-snapshot
Glycemic Control and Chronic Dosing of Rhesus Monkeys with a Fusion Protein of Iduronidase and a Monoclonal Antibody Against the Human Insulin Receptor
inferredcites →https://doi.org/10.1126/science.1225829openalex-snapshot
A Programmable Dual-RNA–Guided DNA Endonuclease in Adaptive Bacterial Immunity
inferredcites →https://doi.org/10.1126/science.165.3894.698openalex-snapshot
Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component
inferredcites →https://doi.org/10.1126/science.276.5311.428openalex-snapshot
Prevention of Lysosomal Storage in Tay-Sachs Mice Treated with N -Butyldeoxynojirimycin
inferredcites →https://doi.org/10.1126/science.366.6464.406openalex-snapshot
Prime editing promises to be a cut above CRISPR
inferredcites →https://doi.org/10.1134/s0006297909030018openalex-snapshot
Ganglioside GM3 and its biological functions
inferredcites →https://doi.org/10.1146/annurev-biophys-062215-010822openalex-snapshot
CRISPR–Cas9 Structures and Mechanisms
inferredcites →https://doi.org/10.1152/ajpcell.1992.262.6.c1341openalex-snapshot
Gangliosides as modulators of cell function
inferredcites →https://doi.org/10.1172/jci19639openalex-snapshot
Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses
inferredcites →https://doi.org/10.1177/1759091415569908openalex-snapshot
AAV-Mediated Gene Delivery in a Feline Model of Sandhoff Disease Corrects Lysosomal Storage in the Central Nervous System
inferredcites →https://doi.org/10.1182/blood-2008-03-140830openalex-snapshot
Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes
inferredcites →https://doi.org/10.1182/blood-2010-04-278234openalex-snapshot
Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model
inferredcites →https://doi.org/10.1186/s12887-016-0626-6openalex-snapshot
GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review
inferredcites →https://doi.org/10.1186/s12916-017-0798-4openalex-snapshot
Genome editing for inborn errors of metabolism: advancing towards the clinic
inferredcites →https://doi.org/10.1186/s13023-015-0260-7openalex-snapshot
Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study
inferredcites →https://doi.org/10.1186/s13023-018-0876-5openalex-snapshot
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
inferredcites →https://doi.org/10.1186/s13023-018-0886-3openalex-snapshot
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
inferredcites →https://doi.org/10.1186/s13052-018-0562-1openalex-snapshot
Enzyme replacement therapy: efficacy and limitations
inferredcites →https://doi.org/10.1194/jlr.m021261openalex-snapshot
Property-based design of a glucosylceramide synthase inhibitor that reduces glucosylceramide in the brain
inferredcites →https://doi.org/10.1194/jlr.m081323openalex-snapshot
Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation
inferredcites →https://doi.org/10.1371/journal.pgen.1002943openalex-snapshot
Characterization of Inducible Models of Tay-Sachs and Related Disease
inferredcites →https://doi.org/10.1371/journal.pone.0021758openalex-snapshot
Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease
inferredcites →https://doi.org/10.1371/journal.pone.0041516openalex-snapshot
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants
inferredcites →https://doi.org/10.1371/journal.pone.0108236openalex-snapshot
Analysis of the Role of Homology Arms in Gene-Targeting Vectors in Human Cells
inferredcites →https://doi.org/10.1371/journal.pone.0230898openalex-snapshot
FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis
inferredcites →https://doi.org/10.1523/jneurosci.0822-13.2013openalex-snapshot
Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis
inferredcites →https://doi.org/10.15252/emmm.201505966openalex-snapshot
The awesome lysosome
inferredcites →https://doi.org/10.15252/emmm.201708730openalex-snapshot
Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms
inferredcites →https://doi.org/10.1542/peds.2006-0588openalex-snapshot
The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported
inferredcites →https://doi.org/10.1542/peds.2011-0078openalex-snapshot
Natural History of Infantile GM2 Gangliosidosis
inferredcites →https://doi.org/10.2147/sccaa.s6815openalex-snapshot
Hematopoietic stem cell transplantation
inferredcites →https://doi.org/10.2147/tacg.s85354openalex-snapshot
Animal models of GM2 gangliosidosis: utility and limitations
inferredcites →https://doi.org/10.2174/1566523218666180404162622openalex-snapshot
Genetics and Therapies for GM2 Gangliosidosis
inferredcites →https://doi.org/10.2183/pjab.88.554openalex-snapshot
My journey into the world of sphingolipids and sphingolipidoses
inferredcites →https://doi.org/10.22037/ijcn.v8i3.5759openalex-snapshot
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).
inferredcites →https://doi.org/10.3389/fcell.2016.00071openalex-snapshot
Oligodendrocyte, Astrocyte, and Microglia Crosstalk in Myelin Development, Damage, and Repair
inferredcites →https://doi.org/10.3389/fimmu.2018.03083openalex-snapshot
The C/EBP Homologous Protein (CHOP) Transcription Factor Functions in Endoplasmic Reticulum Stress-Induced Apoptosis and Microbial Infection
inferredcites →https://doi.org/10.3389/fphar.2018.00749openalex-snapshot
The Current State and Future of CRISPR-Cas9 gRNA Design Tools
inferredcites →https://doi.org/10.3389/fphys.2018.01663openalex-snapshot
New Approaches to Tay-Sachs Disease Therapy
inferredcites →https://doi.org/10.3390/ijms19092721openalex-snapshot
In Vivo Genome Editing as a Therapeutic Approach
inferredcites →https://doi.org/10.3390/ijms20235897openalex-snapshot
Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy
inferredcites →https://doi.org/10.3390/ijms21010232openalex-snapshot
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses
inferredcites →https://doi.org/10.3390/ijms21020489openalex-snapshot
Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations
inferredcites →https://doi.org/10.3390/ijms21176213openalex-snapshot
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies
inferredcites →https://doi.org/10.3390/v11020102openalex-snapshot
Adeno-Associated Virus (AAV) Versus Immune Response
inferredcites →https://doi.org/10.3928/19382359-20180424-01openalex-snapshot
Enzyme Replacement Therapy: A Review and Its Role in Treating Lysosomal Storage Diseases
inferredcites →https://doi.org/10.4161/pri.28938openalex-snapshot
The therapeutic potential of chemical chaperones in protein folding diseases
inferredcites →https://doi.org/10.4274/jpr.87609openalex-snapshot
An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis
inferredcites →https://doi.org/10.5402/2012/506160openalex-snapshot
Ganglioside Biochemistry
inferredcites →https://doi.org/10.5650/jos.60.537openalex-snapshot
Structures, Biosynthesis, and Functions of Gangliosides-an Overview
inferredcites →https://doi.org/10.7554/elife.51539openalex-snapshot
An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4654989openalex-extracted
A Fluorescent Probe for Selective Detection of Lysosomal ß-Hexosaminidase in Live Cells
inferred← citeshttps://doi.org/10.1002/9783527831326.ch9openalex-snapshot
Carbohydrate‐Based Therapeutics for Lysosomal Storage Disorders
inferred← citeshttps://doi.org/10.1002/ajmg.c.31849openalex-snapshot
Human recombinant lysosomal β‐Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay‐Sachs fibroblasts
inferred← citeshttps://doi.org/10.1002/cam4.5907openalex-snapshot
Therapeutic effects of anti‐GM2 CAR‐T cells expressing IL‐7 and CCL19 for GM2‐positive solid cancer in xenograft model
inferred← citeshttps://doi.org/10.1002/cpt.2543openalex-snapshot
Gene Therapy for Rare Neurological Disorders
inferred← citeshttps://doi.org/10.1002/jimd.12700openalex-snapshot
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease
inferred← citeshttps://doi.org/10.1002/mdc3.70475openalex-snapshot
Ethnic and Epidemiological Peculiarities of Movement Disorders across the World
inferred← citeshttps://doi.org/10.1002/pro.4183openalex-snapshot
Compendium of causative genes and their encoded proteins for common monogenic disorders
inferred← citeshttps://doi.org/10.1007/978-3-031-33325-5_8openalex-snapshot
Genome Editing Tools for Lysosomal Storage Disorders
inferred← citeshttps://doi.org/10.1007/978-3-319-66816-1_1798-1openalex-snapshot
Tay-Sachs Disease (TSD) and GM2 gangliosidosis, AB Variant
inferred← citeshttps://doi.org/10.1007/978-981-19-0394-6_13openalex-snapshot
Rare Diseases in Glycosphingolipid Metabolism
inferred← citeshttps://doi.org/10.1007/s00216-024-05487-3openalex-snapshot
A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis
inferred← citeshttps://doi.org/10.1007/s00415-025-13091-3openalex-snapshot
Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases
inferred← citeshttps://doi.org/10.1007/s00702-025-02925-zopenalex-snapshot
Sphingolipidoses: expanding the spectrum of α-synucleinopathies
inferred← citeshttps://doi.org/10.1007/s10072-022-06270-xopenalex-snapshot
GM2 gangliosidosis AB variant: first case of late onset and review of the literature
inferred← citeshttps://doi.org/10.1007/s11011-025-01553-6openalex-snapshot
Combined treatment of Ketogenic diet and propagermanium reduces neuroinflammation in Tay-Sachs disease mouse model
inferred← citeshttps://doi.org/10.1007/s12311-026-01996-2openalex-snapshot
N-acetyl-L-leucine in Neurological Disorders: Mechanisms, Evidence, and Therapeutic Perspectives
inferred← citeshttps://doi.org/10.1007/s40261-023-01275-6openalex-snapshot
Pharmacokinetics, Safety, and Tolerability of Single-Dose Orally Administered Venglustat in Healthy Chinese Volunteers
inferred← citeshttps://doi.org/10.1016/b978-0-12-820552-5.00018-8openalex-snapshot
Metabolic Disorders With Associated Movement Abnormalities
inferred← citeshttps://doi.org/10.1016/b978-0-12-824060-1.00046-8openalex-snapshot
Neurometabolic disorders
inferred← citeshttps://doi.org/10.1016/b978-0-323-98817-9.00006-5openalex-snapshot
Lysosomal storage disorders: Clinical and therapeutic aspects
inferred← citeshttps://doi.org/10.1016/b978-0-323-99209-1.00008-9openalex-snapshot
Lysosomal storage diseases
inferred← citeshttps://doi.org/10.1016/b978-0-323-99616-7.00017-7openalex-snapshot
Strategies to combat Tay-Sachs disease
inferred← citeshttps://doi.org/10.1016/b978-0-443-10944-7.00097-4openalex-snapshot
Inherited Metabolic Epilepsies
inferred← citeshttps://doi.org/10.1016/b978-0-443-16156-8.00005-5openalex-snapshot
Functions of glycosphingolipids in the central nervous system
inferred← citeshttps://doi.org/10.1016/b978-0-443-16156-8.00007-9openalex-snapshot
Glycosphingolipids and central nervous system–related diseases
inferred← citeshttps://doi.org/10.1016/b978-0-443-19041-4.00048-0openalex-snapshot
GM2-gangliosidoses
inferred← citeshttps://doi.org/10.1016/b978-0-443-19116-9.00022-1openalex-snapshot
Lysosome and lipid metabolism
inferred← citeshttps://doi.org/10.1016/b978-0-443-19116-9.00040-3openalex-snapshot
Associations of lipids with diseases in large cohort studies and randomized trials
inferred← citeshttps://doi.org/10.1016/b978-0-443-31698-2.00020-5openalex-snapshot
Multitargets drug design for screening of phytochemicals to cure metabolic disorders
inferred← citeshttps://doi.org/10.1016/b978-0-443-41379-7.00010-xopenalex-snapshot
Lysosomal storage disorders: Sphingolipidoses and transport disorders
inferred← citeshttps://doi.org/10.1016/bs.pmbts.2021.02.001openalex-snapshot
Genome editing in lysosomal disorders
inferred← citeshttps://doi.org/10.1016/j.ab.2026.116157openalex-snapshot
Novel HEXB variant and first evidence of urinary Gb4 isoforms in Sandhoff disease: Biochemical and bioinformatic characterization in two Moroccan families
inferred← citeshttps://doi.org/10.1016/j.addr.2022.114531openalex-snapshot
Liposomal formulations for treating lysosomal storage disorders
inferred← citeshttps://doi.org/10.1016/j.addr.2022.114532openalex-snapshot
Models to study basic and applied aspects of lysosomal storage disorders
inferred← citeshttps://doi.org/10.1016/j.clinbiochem.2025.111011openalex-snapshot
Urine proteome uncovers common mechanisms between mucopolysaccharidosis types I and II
inferred← citeshttps://doi.org/10.1016/j.jbior.2022.100900openalex-snapshot
Sphingolipids and their role in health and disease in the central nervous system
inferred← citeshttps://doi.org/10.1016/j.lfs.2024.122786openalex-snapshot
Harnessing potential role of gangliosides in immunomodulation and cancer therapeutics
inferred← citeshttps://doi.org/10.1016/j.molimm.2025.09.005openalex-snapshot
Therapeutic targeting of neuroinflammation in sphingolipidosis
inferred← citeshttps://doi.org/10.1016/j.nbd.2025.107099openalex-snapshot
Activation of ABCC1 transporter ameliorates synaptic dysregulation in Tay-Sachs disease neuron
inferred← citeshttps://doi.org/10.1016/j.neubiorev.2026.106931openalex-snapshot
Disruptions in speech, language and social communication in lysosomal storage diseases
inferred← citeshttps://doi.org/10.1016/j.neuropharm.2026.111161openalex-snapshot
Intraperitoneal administration of adenosine A2A receptor antagonist reduces neuroinflammatory and antioxidant responses in GM2 gangliosidosis mouse model
inferred← citeshttps://doi.org/10.1016/j.neurot.2024.e00443openalex-snapshot
Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials
inferred← citeshttps://doi.org/10.1016/j.nmd.2021.04.011openalex-snapshot
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering
inferred← citeshttps://doi.org/10.1016/j.omtm.2024.101357openalex-snapshot
Advances in AAV-mediated gene replacement therapy for pediatric monogenic neurological disorders
inferred← citeshttps://doi.org/10.1016/j.omtn.2024.102401openalex-snapshot
Precise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective
inferred← citeshttps://doi.org/10.1016/j.snb.2025.137519openalex-snapshot
An activity-based near-infrared (NIR) fluorogenic probe for labeling lysosomal β-hexosaminidase in cells
inferred← citeshttps://doi.org/10.1016/j.talanta.2024.125715openalex-snapshot
A fluorescent probe for selective detection of lysosomal β-hexosaminidase in live cells
inferred← citeshttps://doi.org/10.1016/j.xcrm.2026.102762openalex-snapshot
AAV-based gene therapy with modified HEXB confers lasting therapeutic benefits in GM2 gangliosidosis models
inferred← citeshttps://doi.org/10.1016/j.ymgme.2021.05.001openalex-snapshot
A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease
inferred← citeshttps://doi.org/10.1016/j.ymgme.2022.106968openalex-snapshot
The landscape of CRISPR/Cas9 for inborn errors of metabolism
inferred← citeshttps://doi.org/10.1016/j.ymgme.2023.107648openalex-snapshot
Molecular Trojan Horses for treating lysosomal storage diseases
inferred← citeshttps://doi.org/10.1016/j.ymgme.2023.107690openalex-snapshot
Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies
inferred← citeshttps://doi.org/10.1016/j.ymgme.2024.108517openalex-snapshot
Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening
inferred← citeshttps://doi.org/10.1016/j.ymgme.2026.109905openalex-snapshot
Tay-Sachs disease models: From cellular and animal models to treatment perspectives
inferred← citeshttps://doi.org/10.1016/j.ymgme.2026.110164openalex-snapshot
The RAINBOW study: a phase 2 trial evaluating the 3-month pharmacokinetic and pharmacodynamic data and 18-month clinical and safety outcomes of nizubaglustat in GM2 gangliosidoses or Niemann–Pick type C disease
inferred← citeshttps://doi.org/10.1016/j.ymgme.2026.110291openalex-snapshot
A prospective, longitudinal, natural history study of neurological disease trajectory in children with late-infantile or juvenile-onset GM1 gangliosidosis or GM2 gangliosidoses: the PRONTO study
inferred← citeshttps://doi.org/10.1016/j.ymgmr.2022.100843openalex-snapshot
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients
inferred← citeshttps://doi.org/10.1016/s0246-1072(26)44457-0openalex-snapshot
Manifestations psychiatriques des maladies héréditaires du métabolisme traitables chez l’adulte
inferred← citeshttps://doi.org/10.1021/acs.jproteome.5c00382openalex-snapshot
A Differential Proteomic Analysis on Patient Sera with Neuromyelitis Spectrum Disorders (NMOSD) and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) Suggested Shared and Distinct Disease Mechanisms
inferred← citeshttps://doi.org/10.1021/acschemneuro.2c00057openalex-snapshot
O-GlcNAcase Inhibitor ASN90 is a Multimodal Drug Candidate for Tau and α-Synuclein Proteinopathies
inferred← citeshttps://doi.org/10.1021/acssensors.5c04635openalex-snapshot
An Enzyme-Responsive Gd(III) MRI Probe for Visualizing β-Hexosaminidase A Activity
inferred← citeshttps://doi.org/10.1038/s41392-024-01780-wopenalex-snapshot
Adeno-associated virus as a delivery vector for gene therapy of human diseases
inferred← citeshttps://doi.org/10.1038/s41419-022-05410-7openalex-snapshot
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
inferred← citeshttps://doi.org/10.1038/s41439-024-00300-0openalex-snapshot
Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
inferred← citeshttps://doi.org/10.1038/s41598-026-61695-0openalex-snapshot
Extracellular vesicles from inflammatory-primed stromal cells reduce in vitro inflammation in Sandhoff disease model
inferred← citeshttps://doi.org/10.1038/s42003-025-08272-9openalex-snapshot
PGRN as an emerging regulator of lipid metabolism in neurodegenerative diseases
inferred← citeshttps://doi.org/10.1038/s42004-024-01102-9openalex-snapshot
A modular chemoenzymatic cascade strategy for the structure-customized assembly of ganglioside analogs
inferred← citeshttps://doi.org/10.1039/d3cs00032jopenalex-snapshot
Glycosidase-targeting small molecules for biological and therapeutic applications
inferred← citeshttps://doi.org/10.1053/j.sult.2025.04.001openalex-snapshot
Genetic and Metabolic Conditions Presenting as Pediatric Leukodystrophies
inferred← citeshttps://doi.org/10.1080/07391102.2026.2632159openalex-snapshot
Pyrimethamine-based targeting of HEXA gene mutations in Tay-Sachs disease: a computational analysis
inferred← citeshttps://doi.org/10.1080/14756366.2022.2073444openalex-snapshot
sp 2 -Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease
inferred← citeshttps://doi.org/10.1089/scd.2025.0042openalex-snapshot
Extracellular Vesicles from Mesenchymal Stromal Cells Modulate Inflammatory Responses on Feline Mixed Glia
inferred← citeshttps://doi.org/10.1093/glycob/cwab108openalex-snapshot
N-acetyl-β-D-hexosaminidases mediate the generation of paucimannosidic proteins via a putative noncanonical truncation pathway in human neutrophils
inferred← citeshttps://doi.org/10.1093/hmg/ddae153openalex-snapshot
4-Phenylbutyric acid mitigates ER stress-induced neurodegeneration in the spinal cords of a GM2 gangliosidosis mouse model
inferred← citeshttps://doi.org/10.1093/med/9780197659403.003.0054openalex-snapshot
Ocular Manifestations of Inherited Neurodegenerative Disorders
inferred← citeshttps://doi.org/10.1097/md.0000000000033890openalex-snapshot
A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China
inferred← citeshttps://doi.org/10.1098/rsob.220155openalex-snapshot
Lysosomal positioning diseases: beyond substrate storage
inferred← citeshttps://doi.org/10.1101/2024.08.20.608810openalex-snapshot
Plasma Membrane Remodelling in GM2 Gangliosidoses Drives Synaptic Dysfunction
inferred← citeshttps://doi.org/10.1101/2024.11.15.623838openalex-snapshot
Intravenous gene therapy improves lifespan and clinical outcomes in feline Sandhoff Disease
inferred← citeshttps://doi.org/10.1101/2025.04.08.25325262openalex-snapshot
Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype
inferred← citeshttps://doi.org/10.1111/ene.15871openalex-snapshot
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review
inferred← citeshttps://doi.org/10.1126/scitranslmed.adx2447openalex-snapshot
Intravenous gene therapy improves life span and clinical outcomes in a feline model of Sandhoff disease
inferred← citeshttps://doi.org/10.1134/s1022795424010125openalex-snapshot
GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family
inferred← citeshttps://doi.org/10.1152/ajpendo.00359.2024openalex-snapshot
Long-lasting recombinant HEXA treatment improves hepatic steatosis and glycemic control in mild, but not severe, metabolic dysfunction-associated steatohepatitis
inferred← citeshttps://doi.org/10.1155/2024/1099113openalex-snapshot
Silencing of B4Galnt1 Gene Prevents GM2 Accumulation in Tay-Sachs Cells
inferred← citeshttps://doi.org/10.1155/2024/4047025openalex-snapshot
Induction of Exocytosis Rescues Lysosomal GM2 Accumulation in Tay-Sachs Disease
inferred← citeshttps://doi.org/10.1177/08830738241246703openalex-snapshot
Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function
inferred← citeshttps://doi.org/10.1186/s12883-023-03267-7openalex-snapshot
Clinical and genetic features of a case with juvenile onset sandhoff disease
inferred← citeshttps://doi.org/10.1186/s12974-026-03783-6openalex-snapshot
A novel humanized mouse model exhibits neurobehavioral impairments and recapitulates key neuropathological features of infantile Tay-Sachs disease
inferred← citeshttps://doi.org/10.1186/s40035-022-00322-0openalex-snapshot
Deciphering lipid dysregulation in ALS: from mechanisms to translational medicine
inferred← citeshttps://doi.org/10.1186/s40246-026-00995-yopenalex-snapshot
An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis
inferred← citeshttps://doi.org/10.1186/s40478-026-02308-9openalex-snapshot
Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models
inferred← citeshttps://doi.org/10.1212/wnl.0000000000207898openalex-snapshot
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis
inferred← citeshttps://doi.org/10.1371/journal.pbio.3003265openalex-snapshot
Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction
inferred← citeshttps://doi.org/10.1371/journal.pone.0315005openalex-snapshot
Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model
inferred← citeshttps://doi.org/10.14302/issn.2470-5020.jnrt-22-4217openalex-snapshot
Tay-Sachs Disease: From Molecular Characterization to Ethical Quandaries and the Possibility of Genetic Medicine
inferred← citeshttps://doi.org/10.15690/vsp.v23i4.2770openalex-snapshot
GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case
inferred← citeshttps://doi.org/10.17816/ped14493-111openalex-snapshot
Lysosomal storage diseases. Sphingolipidoses — gangliosidoses
inferred← citeshttps://doi.org/10.17826/cumj.945717openalex-snapshot
GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations
inferred← citeshttps://doi.org/10.20944/preprints202104.0161.v1openalex-snapshot
Sphingolipids and Cell Signaling: Relationship Between Health and Disease in the Central Nervous System
inferred← citeshttps://doi.org/10.21203/rs.3.rs-4577970/v1openalex-snapshot
Human Recombinant Lysosomal β-Hexosaminidase A produced in P.pastoris efficiently reduced GM2 ganglioside accumulation in Tay- Sachs Disease
inferred← citeshttps://doi.org/10.2139/ssrn.4229942openalex-snapshot
Plasma GM2 Ganglioside Potential Biomarker for Diagnosis, Prognosis and Disease Monitoring of GM2-Gangliosidosis
inferred← citeshttps://doi.org/10.2139/ssrn.5069140openalex-snapshot
An Activity-Based Near-Infrared (Nir) Fluorogenic Probe for Labeling Lysosomal Β-Hexosaminidase in Cells
inferred← citeshttps://doi.org/10.2147/ijn.s457393openalex-snapshot
Advancing CNS Therapeutics: Enhancing Neurological Disorders with Nanoparticle-Based Gene and Enzyme Replacement Therapies
inferred← citeshttps://doi.org/10.2174/1566523221666210728141924openalex-snapshot
Clinical Development of Cell Therapies to Halt Lysosomal Storage Diseases: Results and Lessons Learned
inferred← citeshttps://doi.org/10.22037/ijcn.v18i2.40751openalex-snapshot
GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography.
inferred← citeshttps://doi.org/10.3389/fnmol.2021.695937openalex-snapshot
Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord
inferred← citeshttps://doi.org/10.3389/fped.2023.1147836openalex-snapshot
Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report
inferred← citeshttps://doi.org/10.3389/fphar.2022.906647openalex-snapshot
Therapeutic Strategies For Tay-Sachs Disease
inferred← citeshttps://doi.org/10.3390/app15052863openalex-snapshot
Sphingolipidoses and Retinal Involvement: A Comprehensive Review
inferred← citeshttps://doi.org/10.3390/biom12101434openalex-snapshot
Aberrant Ganglioside Functions to Underpin Dysregulated Myelination, Insulin Signalling, and Cytokine Expression: Is There a Link and a Room for Therapy?
inferred← citeshttps://doi.org/10.3390/biom12111559openalex-snapshot
The Pharmacorank Search Tool for the Retrieval of Prioritized Protein Drug Targets and Drug Repositioning Candidates According to Selected Diseases
inferred← citeshttps://doi.org/10.3390/biomedicines11041067openalex-snapshot
Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases
inferred← citeshttps://doi.org/10.3390/brainsci11060763openalex-snapshot
Update on Neuropathies in Inborn Errors of Metabolism
inferred← citeshttps://doi.org/10.3390/cells14151147openalex-snapshot
CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9
inferred← citeshttps://doi.org/10.3390/ijms231810672openalex-snapshot
CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors
inferred← citeshttps://doi.org/10.3390/ijms24054747openalex-snapshot
Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish
inferred← citeshttps://doi.org/10.3390/ijms24119217openalex-snapshot
Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis
inferred← citeshttps://doi.org/10.3390/ijms241612645openalex-snapshot
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis
inferred← citeshttps://doi.org/10.3390/ijms241914611openalex-snapshot
Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis
inferred← citeshttps://doi.org/10.3390/ijms25179629openalex-snapshot
Environmental Temperature Variation Affects Brain Lipid Composition in Adult Zebrafish (Danio rerio)
inferred← citeshttps://doi.org/10.3390/ijms252010949openalex-snapshot
Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders
inferred← citeshttps://doi.org/10.3390/ijms26052213openalex-snapshot
Progress in AAV-Mediated In Vivo Gene Therapy and Its Applications in Central Nervous System Diseases
inferred← citeshttps://doi.org/10.3390/ijms27146503openalex-snapshot
Modeling Tay-Sachs Disease in Astrocyte-like Cells Reveals Significant Changes in the Transcriptomic Profile
inferred← citeshttps://doi.org/10.3390/jfb15060153openalex-snapshot
Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease
inferred← citeshttps://doi.org/10.3390/livers6020029openalex-snapshot
A Mechanistic Framework of Genetic Liver Diseases: From Developmental Defects to Functional Disorders
inferred← citeshttps://doi.org/10.3390/neurolint17070098openalex-snapshot
Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay–Sachs Disease
inferred← citeshttps://doi.org/10.3390/pharmaceutics17050628openalex-snapshot
Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease
inferred← citeshttps://doi.org/10.3390/v13091746openalex-snapshot
Unique Tropism and Entry Mechanism of Mumps Virus
inferred← citeshttps://doi.org/10.37811/cl_rcm.v7i6.8795openalex-snapshot
Empleo de Adeno Vectores Asociados para el Tratamiento de la Enfermedad de Tay Sachs
inferred← citeshttps://doi.org/10.4103/1673-5374.343890openalex-snapshot
Gangliosides in nervous system development, regeneration, and pathologies
inferred← citeshttps://doi.org/10.4103/1673-5374.375328openalex-snapshot
Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells
inferred← citeshttps://doi.org/10.55302/jms2252025nopenalex-snapshot
COMPOUND HETEROZYGOTE REASON FOR JUVENILE FORM OF TAY-SACHIS DISEASE -CASE REPORT
inferred← citeshttps://doi.org/10.64898/2026.01.08.698519openalex-snapshot
Aging Converts Microglial Repopulation into Maladaptive Reprogramming that Exacerbates Cognitive Deficits
inferred← citeshttps://doi.org/10.70675/c50d4b54ze35bz498bz85c0z19c7bf716b76openalex-snapshot
The implication of class 3 PI3K in lysosomal membrane damage response in lysosomal storage disorders
inferred← citeshttps://doi.org/10.7499/j.issn.1008-8830.2201048openalex-snapshot
[Progressive psychomotor regression for 2.5 years in a boy aged 5 years].
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