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Ocular pathology of bovine GM1 gangliosidosis
Acta Neuropathologica, 1978Late-onset of disturbed vision is a clinical feature of bovine GM1 gangliosidosis. Studies on eight affected calves showed that ocular lesions were confined to the retinae and optic nerves. Myriad tiny white spots were visible by ophthalmic examination of the fundus.
B J, Sheahan, W J, Donnelly, T D, Grimes
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Small Ruminant Research, 1991
Abstract Ovine GM1 gangliosidosis is a newly described neuronal lysosomal storage disease first observed in Suffolk sheep. Affected sheep are clinically normal at birth and exhibit ataxia at 4 to 6 months of age which rapidly progresses to prostration.
D J, Prieur +2 more
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Abstract Ovine GM1 gangliosidosis is a newly described neuronal lysosomal storage disease first observed in Suffolk sheep. Affected sheep are clinically normal at birth and exhibit ataxia at 4 to 6 months of age which rapidly progresses to prostration.
D J, Prieur +2 more
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Studies on GM1-gangliosidosis, type II
Acta Neuropathologica, 1974Post-mortem studies on a 6-year old boy with GM1-gangliosidosis, Type II revealed no evidence of accumulation of residual bodies nor of gangliosides or glycoproteins in liver and spleen. In brain tissue the ganglioside GM1 accounted for 70% of the ganglioside fraction and ganglioside-NANA was increased 3.6 fold over controls.
V, Patel +3 more
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Pathologic Findings in Fetal GM1 Gangliosidosis
Archives of Neurology, 1986A 24-week fetus with GM1 gangliosidosis (type 1) was studied using biochemical and histopathologic methods. Foam cells in viscera and placenta demonstrated widespread accumulation of a lipidlike material. By microscopy, central nervous system storage appeared confined to the retina and dorsal root ganglia, but the brain ganglioside content was ...
F R, Bieber +3 more
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Neuroimaging findings in infantile GM1 gangliosidosis
European Journal of Paediatric Neurology, 2006GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. Three clinical forms (infantile-, juvenile-, and adult-onset) of the disease are recognized. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with somatic and bony changes, followed by ...
Ilknur, Erol +4 more
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Chemical chaperone therapy for GM1-gangliosidosis
Cellular and Molecular Life Sciences, 2008We have proposed a chemical chaperone therapy for lysosomal diseases, based on a paradoxical phenomenon that an exogenous competitive inhibitor of low molecular weight stabilizes the target mutant molecule and restores its catalytic activity as a molecular chaperone intracellularly.
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[GM1-gangliosidosis knockout mouse].
No to hattatsu = Brain and development, 1998We generated a beta-galactosidosis mouse by gene targeting in an embryonic stem cell. Clinical, pathological, and biochemical analyses revealed that this mouse is a useful animal model to study the pathogenesis and therapy of human GM1-gangliosidosis.
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