Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff disease.

Bilateral Macular Cherry-Red Spots in Infantile Sandhoff Disease.

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of Drosophila melanogaster During Aging.

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis.

3D bioprinted neural scaffolds: a transformative avenue for GM2 gangliosidosis therapy.

Bioprinting neural tissue to decode Sandhoff disease: promise and barriers.

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study.

Decoding the Hex-GM2-MGL2 axis in microglia-neuron crosstalk.

Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials.

Five-year analysis of efficacy and safety of a bidirectional AAV gene therapy in Tay-Sachs sheep.

Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.

Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.

A pathogenic alpha synuclein variant exacerbates disease progression in a neuron-specific Gba-KO mouse.

Microglial replacement in a Sandhoff disease mouse model reveals myeloid-derived β-hexosaminidase is necessary for neuronal health.

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.

Therapeutic genetic restoration through allogeneic brain microglia replacement.

Microglia-neuron crosstalk through Hex-GM2-MGL2 maintains brain homeostasis.

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.

Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases.

Subacute Juvenile Sandhoff Disease: A Progressive Neurodegenerative Disorder.

Myotonic Discharges in Infantile Sandhoff Disease.

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

Brain-wide microglia replacement using a nonconditioning strategy ameliorates pathology in mouse models of neurological disorders.

Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype.

Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases.

Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation.

Tay-Sachs and Sandhoff Diseases: Diffusion tensor imaging and correlational fiber tractography findings differentiate late-onset GM2 Gangliosidosis.

Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease.

Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease.

Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency.

Intravenous gene therapy improves lifespan and clinical outcomes in feline Sandhoff Disease.

4-Phenylbutyric acid mitigates ER stress-induced neurodegeneration in the spinal cords of a GM2 gangliosidosis mouse model.

Myeloid-derived β-hexosaminidase is essential for neuronal health and lysosome function: implications for Sandhoff disease.

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.

Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease.

Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening.

Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.

Inherited metabolic disorders in Cyprus.

Cinnamic acid, a natural plant compound, exhibits neuroprotection in a mouse model of Sandhoff disease via PPARα.

Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome.

Innate immune sensing of lysosomal dysfunction drives multiple lysosomal storage disorders.

Intrathecal delivery of a bicistronic AAV9 vector expressing β-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study.

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.

Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.

The diagnostic journey for patients with late-onset GM2 Gangliosidoses.

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis.

Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy.

Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells.

Clinical and genetic features of a case with juvenile onset sandhoff disease.

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.

Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.

Ursodeoxycholic Acid Binds PERK and Ameliorates Neurite Atrophy in a Cellular Model of GM2 Gangliosidosis.

Gene Therapy of Sphingolipid Metabolic Disorders.

Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.

Inherited myopathy plus: Double-trouble from rare neuromuscular disorders.

[Pathophysiology of Sandhoff Disease and Novel Thrapeutic Targets].

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.

Gene Expression Profile in the Sandhoff Mouse Brain with Progression of Age.

Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.

P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.

[Clinical characteristics and genetic analysis of a child with infantile Sandhoff disease and eosinophilia].

Infantile Sandhoff disease with ventricular septal defect: a case report.

Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant.

HexA-Enzyme Coated Polymer Nanoparticles for the Development of a Drug-Delivery System in the Treatment of Sandhoff Lysosomal Storage Disease.

Therapeutic advantages of combined gene/cell therapy strategies in a murine model of GM2 gangliosidosis.

Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats.

Lysosomal gene Hexb displays haploinsufficiency in a knock-in mouse model of Alzheimer's disease.

Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.

N-acetyl-β-D-hexosaminidases mediate the generation of paucimannosidic proteins via a putative noncanonical truncation pathway in human neutrophils.

Atypical presentation of late-onset Sandhoff disease: a case report.

L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice Using an Intravenous Self-Complementary Hexosaminidase Vector.

White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy.

The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.

Microglia-Specific Expression of HEXA and HEXB Leads to Poor Prognosis in Glioblastoma Patients.

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.

Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models.

[Glial cells and pharmacological targets in Sandhoff disease].

Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease.

Functionality of a bicistronic construction containing HEXA and HEXB genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses.

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.

Effect of Yuzu (Citrus junos) Seed Limonoids and Spermine on Intestinal Microbiota and Hypothalamic Tissue in the Sandhoff Disease Mouse Model.

Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis.

Acetyl-leucine slows disease progression in lysosomal storage disorders.

Sandhoff disease in the elderly: a case study.

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia.

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.

Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by Metabolomics.

Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses.

Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses.

Human recombinant lysosomal β-Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay-Sachs fibroblasts.

Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.

Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders.

Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report.

Therapeutic benefit after intracranial gene therapy delivered during the symptomatic stage in a feline model of Sandhoff disease.

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

Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity.

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease).

Abnormal epiphyseal development in a feline model of Sandhoff disease.

Pronounced Therapeutic Benefit of a Single Bidirectional AAV Vector Administered Systemically in Sandhoff Mice.

Development of Specific Fluorogenic Substrates for Human β-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.

Improvement of motor and behavioral activity in Sandhoff mice transplanted with human CD34+ cells transduced with a HexA/HexB expressing lentiviral vector.

Animal Model Contributions to Congenital Metabolic Disease.

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.

Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease.

Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Natural History of Adult Patients with GM2 Gangliosidosis.

Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.

Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy.

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.

[Analysis of HEXB gene mutations in an infant with Sandhoff disease].

Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis.

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience.

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Brain endothelial specific gene therapy improves experimental Sandhoff disease.

Abnormal organization during neurodevelopment in a mouse model of Sandhoff disease.

Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity.

Ganglioside GM2 catabolism is inhibited by storage compounds of mucopolysaccharidoses and by cationic amphiphilic drugs.

Membrane lipids and their degradation compounds control GM2 catabolism at intralysosomal luminal vesicles.

Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model.

Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease.

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene.

Extensive Mongolian spots and normocephaly: an uncommon presentation of infantile Sandhoff's disease.

Inhibition of astrocytic adenosine receptor A2A attenuates microglial activation in a mouse model of Sandhoff disease.

THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO).

Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders.

Improvement in dysmyelination by the inhibition of microglial activation in a mouse model of Sandhoff disease.

Genetics and Therapies for GM2 Gangliosidosis.

Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation.

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.

Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice.

An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty.

Lysosomal storage diseases.

Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.

[Juvenile form of Sandhoff disease: first case reported in Argentina].

GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

Microcephaly in infantile Sandhoff's disease.

Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage.

Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.

GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.

Infantile gangliosidoses: Mapping a timeline of clinical changes.

PUGNAc treatment provokes globotetraosylceramide accumulation in human umbilical vein endothelial cells.

Suppression of NK and CD8+ T cells reduces astrogliosis but accelerates cerebellar dysfunction and shortens life span in a mouse model of Sandhoff disease.

Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.

Direct Intracranial Injection of AAVrh8 Encoding Monkey β-N-Acetylhexosaminidase Causes Neurotoxicity in the Primate Brain.

FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice.

Infantile Sandhoff Disease: Unusual presentation.

Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice.

AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease.

Bi-phasic gliosis drives neuropathology in a Sandhoff disease mouse model.

Early cardiac involvement in an infantile Sandhoff disease case with novel mutations.

Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.

Neural Stem Cell Transplantation and CNS Diseases.

Animal models of GM2 gangliosidosis: utility and limitations.

Accumulated α-synuclein affects the progression of GM2 gangliosidoses.

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts.

Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.

Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.

Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.

Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo.

Very late-onset Sandhoff disease presenting as Kennedy disease.

Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.

TSPO in a murine model of Sandhoff disease: presymptomatic marker of neurodegeneration and disease pathophysiology.

Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice.

GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog.

Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease.

Toddler with retinal defects. . .psychomotor regression. Sandhoff disease.

Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy.

Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis.

AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system.

Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses.

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.

Innate immune responses in the brain of sphingolipid lysosomal storage diseases.

Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.