Results 141 to 150 of about 1,188 (166)

The Gangliosidoses: Comparative Features and Research Applications

Veterinary Pathology, 1979
Ganglioside storage diseases are inherited defects of lysosomal hydrolases that result in intralysosomal accumulation of gangliosides and other complex metabolites. Gangliosidoses occur in man, cats, cattle, dogs and swine. In all species, these diseases are characterized clinically by relentlessly progressive neurological deterioration.
H J, Baker, G D, Reynolds, S U, Walkley, N R, Cox, G H, Baker   +4 more
openaire   +2 more sources

Biochemistry of Gangliosidoses

1985
Lipid storage disorders comprise a rather heterogeneous group of progredient and often fatal diseases which mainly disable the nervous system. The biochemical analysis of these diseases led to the discovery of several glycosphingolipids and triggered the investigation of their metabolism.
K. Sandhoff, E. Conzelmann
openaire   +1 more source

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
openaire   +2 more sources

Neuropathology of Late Onset Gangliosidoses

Developmental Neuroscience, 1991
Neuropathological features of late onset gangliosidoses are reviewed. Although neuropathological studies are carried out on limited numbers of late onset cases, it appears that electron-dense heterogeneous conglomerates of neuronal inclusions increased with age admixed with more typical membranous cytoplasmic inclusions of gangliosidosis.
openaire   +1 more source

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

Spontaneous Gangliosidoses in Animals

1975
During the past two decades, an increasing number of reports have appeared in the literature which have dealt with diseases considered to be the counterpart of human gangliosidoses. Thus for the first time, in 1953, Hagen1 described clinical and pathological features of two cases of “amaurotic idiocy” in English setters.
openaire   +1 more source

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

Chapter 9 GM2 gangliosidoses

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.
openaire   +2 more sources