Results 111 to 120 of about 2,912 (144)

Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses

Current Protocols in Human Genetics, 2014
AbstractThe 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
exaly   +3 more sources

Biology and potential strategies for the treatment of GM2 gangliosidoses

Trends in Molecular Medicine, 1998
The 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
exaly   +3 more sources

Gangliosidoses (GM1 and GM2)

2016
GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency.
Emmanuel Roze, Frédéric Sedel
openaire   +1 more source

Accumulated α-synuclein affects the progression of GM2 gangliosidoses

Experimental Neurology, 2016
The 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).
Akira Yamaguchi, Naoya Aoki, Takashi Togo   +2 more
exaly   +3 more sources

Glycosphingolipid degradation and animal models of GM2‐gangliosidoses

Journal of Inherited Metabolic Disease, 1998
AbstractGlycosphingolipids 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
openaire   +2 more sources

Prenatal diagnosis of GM2 gangliosidoses using a fluorogenic sulfated substrate

Clinica Chimica Acta, 1986
David Wenger, Hyakuji Yabuuchi, O Tanizawa   +2 more
exaly   +3 more sources

Hexosaminidases and ganglioside catabolism in the GM2-gangliosidoses

Chemistry and Physics of Lipids, 1974
Abstract 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 ...
openaire   +2 more sources

The GM2 gangliosidoses: pathophysiology to therapy

International Congress Series, 2001
Abstract 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.
openaire   +1 more source

Accumulation of Lysosphingolipids in Tissues from Patients with GM1 and GM2 Gangliosidoses

Journal of Neurochemistry, 1992
Abstract: 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, I, Goto, S, Okada, T, Orii, K, Ohno, T, Nakano   +5 more
openaire   +2 more sources

GM2 gangliosidoses: A review of cases confirmed by β-N-acetylhexosaminidase assay

The Indian Journal of Pediatrics, 1995
The 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, G R, Rangaswamy, K T, Shetty   +2 more
openaire   +2 more sources