Results 151 to 160 of about 1,666 (186)

GM2 Gangliosidoses

2010
The GM2 gangliosidoses represent a heterogeneous group of lysosomal storage diseases characterised by the deposition of GM2 ganglioside and related glycolipids. They are inherited in an autosomal recessive manner. The basis for the various forms of GM2 gangliosidoses lies in the multifaceted catabolism of GM2 ganglioside, which requires complex ...
Margit Pavelka, Jürgen Roth
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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

Storage and Excretion of Oligosaccharides and Glycopeptides in the Gangliosidoses

1976
Electron microscopical studies of visceral tissues from the infantile form of GM1-gangliosidosis (Type I or generalized gangliosidosis) show extensive cytoplasmic vacuolation of parenchymal cells, histiocytes, fibrocytes and lymphocytes (9,23–25, 29,33,36,44).
L S, Wolfe, N M, Ng Kin Kin
openaire   +2 more sources

The gangliosidoses

The American Journal of Medicine, 1969
L, Schneck, B W, Volk, A, Saifer
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The GM1 Gangliosidoses

2007
The gangliosidoses are a group of lysosomal storage diseases characterized by the accumulation of these complex glycolipids in multiple organs of the body. They manifest a predominantly neurological phenotype, a fact that is probably related to their high prevalence in nervous tissues. The typical presentation is that of a progressive neurodegenerative
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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.
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Gangliosidoses in cats

The Thai Journal of Veterinary Medicine, 2022
Latticha Pluemhathaikij, Waruntip Bunyaputikul, Katriya Chankow, Benchaphorn Limcharoen, Nardtiwa Chaivoravitsakul, Rampaipat Penchome, Sawang Kesdangsakonwut, Kasem Rattanapinyopituk, Wijit Banlunara   +8 more
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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 ...
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Clinical Course of GM₁Gangliosidoses

Neuropediatrics, 1984
The GM1 gangliosidoses are clinically characterized by the combination of a degenerative process in the brain and of storage phenomena in extra-neural tissues, particularly in bones and visceral organs. Phenotypic variability is pronounced. "Classical" types, according to the age at onset, are infantile ("generalized"), juvenile, and adult forms.
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The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment

Neuroscience Letters, 2021
Camilo Toro, Mosufa Zainab, Cynthia J Tifft   +2 more
exaly