ArticleActa neuropathologica1995
Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease.
Article in Acta neuropathologica, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 83 citations in OpenAlex.
- Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.Neurology international · 2025Review
- Neuronal Ganglioside and Glycosphingolipid (GSL) Metabolism and Disease : Cascades of Secondary Metabolic Errors Can Generate Complex Pathologies (in LSDs).Advances in neurobiology · 2023Article
- Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.Tremor and other hyperkinetic movements (New York, N.Y.) · 2022Review
- Therapeutic Strategies For Tay-Sachs Disease.Frontiers in pharmacology · 2022Review
- The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.Neuroscience letters · 2021Article
- Animal Model Contributions to Congenital Metabolic Disease.Advances in experimental medicine and biology · 2020Review
- Integrated Computational Analysis Highlights unique miRNA Signatures in the Subventricular Zone and Striatum of GM2 Gangliosidosis Animal Models.International journal of molecular sciences · 2019Article
- New Approaches to Tay-Sachs Disease Therapy.Frontiers in physiology · 2018Review
- Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo.Molecular therapy. Methods & clinical development · 2016Article
- Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Review
- Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss.PLoS genetics · 2010Article
- Multi-system disorders of glycosphingolipid and ganglioside metabolism.Journal of lipid research · 2010Review
- Early changes in the apparent diffusion coefficient (ADC) in a mouse model of Sandhoff's disease occur prior to disease symptoms and behavioral deficits.Magnetic resonance in medicine · 2009Article
- Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.Journal of inherited metabolic disease · 2001Review
- A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder.The Journal of clinical investigation · 1999Article
- Glycosphingolipid degradation and animal models of GM2-gangliosidoses.Journal of inherited metabolic disease · 1998Review
- Mouse models of human lysosomal diseases.Brain pathology (Zurich, Switzerland) · 1998Review
- Recent advances in the biochemistry of sphingolipidoses.Brain pathology (Zurich, Switzerland) · 1998Review
- Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
A murine model of Tay-Sachs disease, the prototype of the GM2 gangliosidoses, was produced through the targeted disruption of the Hexa gene encoding the subunit of alpha-hexosaminidase A. The mice were completely devoid of beta-hexosaminidase A activity and accumulated GM2 ganglioside in the CNS in an age-dependent manner. Neurons with membranous cytoplasmic bodies (MCBs), identical to those described in Tay-Sachs disease, were identified in the brain of these mice. The neurons with MCBs were periodic acid-Schiff-positive on frozen sections and immunostained with anti-GM2 ganglioside antibody. However, unlike Tay-Sachs disease in which neurons throughout the brain are affected, the localization of storage neurons in these mice appeared to be limited to certain regions, i.e., cerebral cortex, the hippocampus, amygdala, hypothalamus, mammillary nucleus, etc. Storage neurons were absent in the olfactory bulb, cerebellar cortex and spinal anterior horns. The difference in the distribution of storage neurons suggests a difference of ganglioside metabolism between humans and mice. This model is useful for the study of the pathogenic mechanisms of neuronal storage in Tay-Sachs disease and for the evaluation of therapeutic strategies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.