• A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant
• A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome
• A case of Sandhoff disease caused by a novel beta-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China
• A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China
• A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis
• A Clathrin light chain A reporter mouse for in vivo imaging of endocytosis
• A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)
• A fluorescent probe for bioimaging of Hexosaminidases activity and exploration of drug-induced kidney injury in living cell
• 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
• A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders
• Acetyl-leucine slows disease progression in lysosomal storage disorders
• Acid Sphingomyelinase, a Lysosomal and Secretory Phospholipase C, Is Key for Cellular Phospholipid Catabolism
• Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole <em>HEXB</em> Gene Deletion, and Coexisting <em>MYH7</em> Pathogenic Variant
• Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant
• Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
• Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
• Atypical presentation of late-onset Sandhoff disease: a case report
• Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1
• Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1
• Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis
• Cinnamic acid, a natural plant compound, exhibits neuroprotection in a mouse model of Sandhoff disease via PPARalpha
• Clinical and genetic features of a case with juvenile onset sandhoff disease
• Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review
• Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
• Clinical characteristics and genetic analysis of a child with infantile Sandhoff disease and eosinophilia
• Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses
• Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease
• Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis
• Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset
• CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors
• Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by Metabolomics
• Effect of Yuzu (<em>Citrus junos</em>) Seed Limonoids and Spermine on Intestinal Microbiota and Hypothalamic Tissue in the Sandhoff Disease Mouse Model
• Effect of Yuzu (Citrus junos) Seed Limonoids and Spermine on Intestinal Microbiota and Hypothalamic Tissue in the Sandhoff Disease Mouse Model
• Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review
• Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses
• Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis
• Epidermal 1-O-acylceramides appear with the establishment of the water permeability barrier in mice and are produced by maturating keratinocytes
• Evidence of Lysosomal beta-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease
• Exploiting Gangliosides for the Therapy of Ewing's Sarcoma and H3K27M-Mutant Diffuse Midline Glioma
• Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease
• Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report
• From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis
• Functionality of a bicistronic construction containing <em>HEXA</em> and <em>HEXB</em> genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses
• Gene Expression Profile in the Sandhoff Mouse Brain with Progression of Age
• Gene Therapy of Sphingolipid Metabolic Disorders
• Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants
• Glial cells and pharmacological targets in Sandhoff disease
• Glucosylceramide Synthase Inhibitors Induce Ceramide Accumulation and Sensitize H3K27 Mutant Diffuse Midline Glioma to Irradiation
• Glycosphingolipids
• GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies
• HexA-Enzyme Coated Polymer Nanoparticles for the Development of a Drug-Delivery System in the Treatment of Sandhoff Lysosomal Storage Disease
• Human recombinant lysosomal β-Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay-Sachs fibroblasts
• Identification of a novel <em>HEXB</em> Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses
• Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells
• Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients
• Infantile Sandhoff disease with ventricular septal defect: a case report
• Influence of Diameter and Cyclic Mechanical Stimulation on the Beating Frequency of Myocardial Cell-Laden Fibers
• Inherited metabolic disorders in Cyprus
• Inherited myopathy plus: Double-trouble from rare neuromuscular disorders
• Innate immune sensing of lysosomal dysfunction drives multiple lysosomal storage disorders
• Intrathecal delivery of a bicistronic AAV9 vector expressing beta-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study
• Intrathecal delivery of a bicistronic AAV9 vector expressing β-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study
• Investigating Immune Responses to the scAAV9-<em>HEXM</em> Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models
• Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models
• L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation
• Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering
• Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy
• Lipid Structure Matters in Lysosomal Storage Disease
• Lysosomal gene <em>Hexb</em> displays haploinsufficiency in a knock-in mouse model of Alzheimer's disease
• 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
• Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis
• Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders
• Microglia-Specific Expression of <em>HEXA</em> and <em>HEXB</em> Leads to Poor Prognosis in Glioblastoma Patients
• Murine Models of Lysosomal Storage Diseases Exhibit Differences in Brain Protein Aggregation and Neuroinflammation
• N-acetyl-β-D-hexosaminidases mediate the generation of paucimannosidic proteins via a putative noncanonical truncation pathway in human neutrophils
• Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses
• Neuronal Ganglioside and Glycosphingolipid (GSL) Metabolism and Disease : Cascades of Secondary Metabolic Errors Can Generate Complex Pathologies (in LSDs)
• Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3
• P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease
• Pathophysiology of Sandhoff Disease and Novel Thrapeutic Targets
• Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
• Plasma G_M2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
• Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis
• Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature
• Sandhoff disease in the elderly: a case study
• Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report
• Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats
• Sphinganine recruits TLR4 adaptors in macrophages and promotes inflammation in murine models of sepsis and melanoma
• Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening
• The diagnostic journey for patients with late-onset GM2 Gangliosidoses
• The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment
• Therapeutic advantages of combined gene/cell therapy strategies in a murine model of GM2 gangliosidosis
• Therapeutic benefit after intracranial gene therapy delivered during the symptomatic stage in a feline model of Sandhoff disease
• Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice Using an Intravenous Self-Complementary Hexosaminidase Vector
• Two patients from Turkey with a novel variant in the <em>GM2A</em> gene and review of the literature
• Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity
• Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders
• Ursodeoxycholic Acid Binds PERK and Ameliorates Neurite Atrophy in a Cellular Model of GM2 Gangliosidosis
• White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy