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Biology and potential strategies for the treatment of GM2 gangliosidoses
Molecular Medicine Today, 1998The GM2 gangliosidoses are a group of heritable neurodegenerative disorders caused by excessive accumulation of the ganglioside GM2 owing to deficiency in beta-hexosaminidase activity. Tay-Sachs and Sandhoff diseases have similar clinical phenotypes resulting from a deficiency in human hexosaminidase alpha and beta subunits, respectively.
C, Chavany, M, Jendoubi
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Glycosphingolipid degradation and animal models of GM2‐gangliosidoses
Journal of Inherited Metabolic Disease, 1998AbstractGlycosphingolipids form cell type‐specific patterns on the surface of eukaryotic cells. Degradation of glycosphingolipids requires endocytic membrane flow of plasma membrane‐derived glycosphingolipids into the lysosomes as the digesting organelles.
T, Kolter, K, Sandhoff
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Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses
Current Protocols in Human Genetics, 2014AbstractThe GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by defective β‐hexosaminidase. There are three clinical conditions in this group: Tay‐Sachs disease (TSD), Sandhoff disease (SD), and hexosaminidase activator deficiency. The three conditions are clinically indistinguishable.
Patricia, Hall +3 more
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Hexosaminidases and ganglioside catabolism in the GM2-gangliosidoses
Chemistry and Physics of Lipids, 1974Abstract The GM2-gangliosidoses are a set of neurological diseases whose common features include the storage of the ganglioside GM2, N-acetyl galactosaminyl (N-acetylneuraminyl-) galactosylglucosylceramide and related neutral glycosphingolipids in various organs (particularly brain) of affected individuals and the inability of such individuals ...
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The GM2 gangliosidoses: pathophysiology to therapy
International Congress Series, 2001Abstract A family of extremely severe diseases, known as the glycosphingolipidoses, is caused by inherited defects in the lysosomal degradation pathway for glycosphingolipids (GSLs). In most of these disorders, GSLs accumulate in lysosomes, causing neurodegeneration and a shortened life span.
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Accumulated α-synuclein affects the progression of GM2 gangliosidoses
Experimental Neurology, 2016The accumulation of α-synuclein (ASyn) has been observed in several lysosomal storage diseases (LSDs) but it remains unclear if ASyn accumulation contributes to LSD pathology. ASyn also accumulates in the neurons of Sandhoff disease (SD) patients and SD model mice (Hexb-/- ASyn+/+ mice).
Kyoko Suzuki +14 more
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Accumulation of Lysosphingolipids in Tissues from Patients with GM1 and GM2 Gangliosidoses
Journal of Neurochemistry, 1992Abstract: By using a sensitive method, we assayed lysocom‐pounds of gangliosides and asialogangliosides in tissues from four patients with GM2 gangliosidosis (one with Sand‐hoff disease and three with Tay‐Sachs disease) and from three patients with GM1 gangliosidosis [one with infantile type (fetus), one with late‐infantile, and one with adult type ...
T, Kobayashi +5 more
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GM2 gangliosidoses: A review of cases confirmed by β-N-acetylhexosaminidase assay
The Indian Journal of Pediatrics, 1995The inborn errors of GM2 ganglioside metabolism cause GM2 ganglioside to accumulate within the lysosomes of the nerve cells. The majority of the patients are infants with the Tay-Sachs form of the disease associated with a severe deficiency of beta-N-Acetylhexosaminidase A (hexosaminidase A).
R, Christopher +2 more
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2007
LOGM(2)G results from the defective activity of the lyosomal enzyme beta-hexosaminidase A. Continued accumulation of undegraded substrate results in pathology in the central nervous system. The disease is progressive and disease dynamics may vary throughout life.
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LOGM(2)G results from the defective activity of the lyosomal enzyme beta-hexosaminidase A. Continued accumulation of undegraded substrate results in pathology in the central nervous system. The disease is progressive and disease dynamics may vary throughout life.
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