The biochemical basis of gangliosidoses

A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease.

Human molecular genetics·2005

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

Journal of inherited metabolic disease·2005

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

Journal of inherited metabolic disease·2005

Long endogenous dsRNAs can induce complete gene silencing in mammalian cells and primary cultures.

Oligonucleotides·2004

Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.

Neurobiology of disease·2003

Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease.

Neuropathology and applied neurobiology·2003

Assessment of Cerebral Microvascular Development in Preterm Neonates Using Ultrafast Power Doppler Imaging.

Neuropediatrics·2026

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Neuropediatrics·2026

Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource Country.

Neuropediatrics·2026

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Neuropediatrics·2026

Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

Neuropediatrics·2026

Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

Neuropediatrics·2026

From beta-cell stress to tertiary lymphoid structure formation: a stage-dependent framework for interpreting type 1 diabetes progression.

Diabetes research and clinical practice·2026

Micro- and macro- heterogeneity of N-glycoproteome remodeling in endoplasmic reticulum stress.

Molecular & cellular proteomics : MCP·2026

Stop Sign-Triggered Nucleic Acid Structural Transformation Enables Intracellular GlycoRNA Spatial Imaging for Evaluating of Glycosylation Mechanism.

Analytical chemistry·2026

Identification of Senescence-Associated β-Galactosidase With Single-Molecule Resolution.

Angewandte Chemie (International ed. in English)·2026

Sphingolipid Metabolism in Obesity: Bidirectional Regulation and Comparative Perspectives on Plant Sphingolipids.

Nutrients·2026

Brain O-GlcNAcylation in Neurodegenerative Diseases: Context-Dependent Mechanisms and Precision Therapeutic Translation.

Brain sciences·2026

Related Experiment Videos

The biochemical basis of gangliosidoses

Related Concept Videos

A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease.

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

Long endogenous dsRNAs can induce complete gene silencing in mammalian cells and primary cultures.

Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.

Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease.

Assessment of Cerebral Microvascular Development in Preterm Neonates Using Ultrafast Power Doppler Imaging.

Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review.

Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource Country.

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

From beta-cell stress to tertiary lymphoid structure formation: a stage-dependent framework for interpreting type 1 diabetes progression.

Micro- and macro- heterogeneity of N-glycoproteome remodeling in endoplasmic reticulum stress.

Stop Sign-Triggered Nucleic Acid Structural Transformation Enables Intracellular GlycoRNA Spatial Imaging for Evaluating of Glycosylation Mechanism.

Identification of Senescence-Associated β-Galactosidase With Single-Molecule Resolution.

Sphingolipid Metabolism in Obesity: Bidirectional Regulation and Comparative Perspectives on Plant Sphingolipids.

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The biochemical basis of gangliosidoses

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