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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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The use of tears for diagnosis of GM1 gangliosidosis
Clinica Chimica Acta, 1977The properties of beta-galactosidase of tears were investigated and the standard assay system was accomplished. The pH optimum was 4.2. The enzyme had a KM of 8.3 X 10(-4) M. The activity was stimulated by chloride ions and slightly stabilized by bovine serum albumin. The activities of normal individuals were 205 +/- 80 (S.D.) nmol/h/ml.
A, Tsuboyama +4 more
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Dysmyelinogenesis in animal model of GM1 gangliosidosis
Pediatric Neurology, 1992Magnetic resonance imaging (MRI), pathologic examinations, and biochemical analyses were performed on 2 different canine mutants with GM1 gangliosidosis (i.e., English Springer Spaniel and Portuguese Water Dog) and on age- and sex-matched controls. Serial MRI studies were also performed on a child with infantile-onset GM1 gangliosidosis.
E M, Kaye +8 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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The Clinical and Molecular Spectrum of GM1 Gangliosidosis
The Journal of Pediatrics, 2019To evaluate the clinical presentation of patients with GM1 gangliosidosis and to determine whether specific clinical or biochemical signs could lead to a prompt diagnosis.We retrospectively analyzed clinical, biochemical, and genetic data of 22 patients with GM1 gangliosidosis from 5 metabolic centers in Germany and Austria.Eight patients were ...
Laila, Arash-Kaps +9 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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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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A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis
EBioMedicine, 2023Xuntian Jiang +2 more
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