The Experts below are selected from a list of 12 Experts worldwide ranked by ideXlab platform
Klaus Harzer - One of the best experts on this subject based on the ideXlab platform.
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metabolism of GM1 ganglioside in cultured skin fibroblasts anomalies in Gangliosidoses sialidoses and sphingolipid activator protein sap saposin 1 and prosaposin deficient disorders
Human Genetics, 1992Co-Authors: B. Schmid, Barbara C. Paton, Klaus HarzerAbstract:Cultured skin fibroblasts from controls and patients with lysosomal storage diseases were loaded with GM1 ganglioside that had been labelled with tritium in its ceramide moiety. After a 65-h or 240-h incubation, a large percentage of this ganglioside remained undegraded in GM1 Gangliosidoses, whereas in the other storage diseases studied, one of its metabolites accumulated by 2–4 fold relative to controls. Labelled GM2 ganglioside accumulated in 4 variants of GM2 gangliosidosis, whereas labelled GM3 ganglioside accumulated in sialidosis, galactosialidoses and sphingolipid activator protein 1 (SAP-1, saposin B) and prosaposin (saposin A, B, C an D) deficient lipidoses. The reduced degradation of GM3 ganglioside in the SAP-1 and prosaposin deficiencies was attributed to the deficient function of SAP-1. The prosaposin deficient cells also showed a reduced re-utilization of radioactive metabolites from GM1 ganglioside (i.e. sphingosine and fatty acid) for phospholipid biosynthesis compared with fibroblasts from the SAP-1 deficient patient or normal controls. This anomaly was ascribed to the previously shown defect in ceramide degradation in prosaposin deficiency.
B. Schmid - One of the best experts on this subject based on the ideXlab platform.
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metabolism of GM1 ganglioside in cultured skin fibroblasts anomalies in Gangliosidoses sialidoses and sphingolipid activator protein sap saposin 1 and prosaposin deficient disorders
Human Genetics, 1992Co-Authors: B. Schmid, Barbara C. Paton, Klaus HarzerAbstract:Cultured skin fibroblasts from controls and patients with lysosomal storage diseases were loaded with GM1 ganglioside that had been labelled with tritium in its ceramide moiety. After a 65-h or 240-h incubation, a large percentage of this ganglioside remained undegraded in GM1 Gangliosidoses, whereas in the other storage diseases studied, one of its metabolites accumulated by 2–4 fold relative to controls. Labelled GM2 ganglioside accumulated in 4 variants of GM2 gangliosidosis, whereas labelled GM3 ganglioside accumulated in sialidosis, galactosialidoses and sphingolipid activator protein 1 (SAP-1, saposin B) and prosaposin (saposin A, B, C an D) deficient lipidoses. The reduced degradation of GM3 ganglioside in the SAP-1 and prosaposin deficiencies was attributed to the deficient function of SAP-1. The prosaposin deficient cells also showed a reduced re-utilization of radioactive metabolites from GM1 ganglioside (i.e. sphingosine and fatty acid) for phospholipid biosynthesis compared with fibroblasts from the SAP-1 deficient patient or normal controls. This anomaly was ascribed to the previously shown defect in ceramide degradation in prosaposin deficiency.
Singh, Arvind Kumar - One of the best experts on this subject based on the ideXlab platform.
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By the time she diagnosed with GM1 Gangliosidoses she is no more: Case Presentation
Journal of Perinatal Pediatric and Neonatal Nursing (e-ISSN: 2581-9011), 2019Co-Authors: Kumbhakar Samundy, Singh, Arvind KumarAbstract:Beta-galactosidase-1 deficiency is rare lysosomal storage disorder which is also called as GLB1 deficiency or Landing disease. It is an autosomal recessive disorder whose age of onset is usually child hood. Deficiency of beta – galatosidase enzyme due to mutations of GLB1 gene results in toxic accumulation of gangliosides in either body tissues or particularly in the central nervous system which ultimately ends up in neurovisceral, ophthalmological and dysmorphic features. The types of GM1 gangliosidosis is based on the age of onset; infantile form which is severe and rapidly progressive, a late infantile or juvenile form with onset usually from seventh month to 3 years of age accompanied with delayed motor and cognitive development and thirdly an adult or chronic form with late onset characterized by generalized dystonia. The severity of disease depends on the level of beta – galactosidase activity. Due to the wide spectrum of disease, the diagnosis may be difficult. Facial coarsening, hypertrophic gums, cherry -red macula, visceromegaly, dysostosis and psychomotor are some signs of storage disorders which may help to diagnose GM1 gangliosidosis. The confirmative diagnosis is biochemical assay of beta – galactosidase activity by molecular genetic testing. GLB1 molecular analysis can be done either by chorionic villus or amniotic cells as prenatal diagnosis. There is no specific treatment for GM1 gangliosidosis; treatment is symptomatic as well as supportive. Extremely poor prognosis found in severe infantile form.
Barbara C. Paton - One of the best experts on this subject based on the ideXlab platform.
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metabolism of GM1 ganglioside in cultured skin fibroblasts anomalies in Gangliosidoses sialidoses and sphingolipid activator protein sap saposin 1 and prosaposin deficient disorders
Human Genetics, 1992Co-Authors: B. Schmid, Barbara C. Paton, Klaus HarzerAbstract:Cultured skin fibroblasts from controls and patients with lysosomal storage diseases were loaded with GM1 ganglioside that had been labelled with tritium in its ceramide moiety. After a 65-h or 240-h incubation, a large percentage of this ganglioside remained undegraded in GM1 Gangliosidoses, whereas in the other storage diseases studied, one of its metabolites accumulated by 2–4 fold relative to controls. Labelled GM2 ganglioside accumulated in 4 variants of GM2 gangliosidosis, whereas labelled GM3 ganglioside accumulated in sialidosis, galactosialidoses and sphingolipid activator protein 1 (SAP-1, saposin B) and prosaposin (saposin A, B, C an D) deficient lipidoses. The reduced degradation of GM3 ganglioside in the SAP-1 and prosaposin deficiencies was attributed to the deficient function of SAP-1. The prosaposin deficient cells also showed a reduced re-utilization of radioactive metabolites from GM1 ganglioside (i.e. sphingosine and fatty acid) for phospholipid biosynthesis compared with fibroblasts from the SAP-1 deficient patient or normal controls. This anomaly was ascribed to the previously shown defect in ceramide degradation in prosaposin deficiency.
Kumbhakar Samundy - One of the best experts on this subject based on the ideXlab platform.
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By the time she diagnosed with GM1 Gangliosidoses she is no more: Case Presentation
Journal of Perinatal Pediatric and Neonatal Nursing (e-ISSN: 2581-9011), 2019Co-Authors: Kumbhakar Samundy, Singh, Arvind KumarAbstract:Beta-galactosidase-1 deficiency is rare lysosomal storage disorder which is also called as GLB1 deficiency or Landing disease. It is an autosomal recessive disorder whose age of onset is usually child hood. Deficiency of beta – galatosidase enzyme due to mutations of GLB1 gene results in toxic accumulation of gangliosides in either body tissues or particularly in the central nervous system which ultimately ends up in neurovisceral, ophthalmological and dysmorphic features. The types of GM1 gangliosidosis is based on the age of onset; infantile form which is severe and rapidly progressive, a late infantile or juvenile form with onset usually from seventh month to 3 years of age accompanied with delayed motor and cognitive development and thirdly an adult or chronic form with late onset characterized by generalized dystonia. The severity of disease depends on the level of beta – galactosidase activity. Due to the wide spectrum of disease, the diagnosis may be difficult. Facial coarsening, hypertrophic gums, cherry -red macula, visceromegaly, dysostosis and psychomotor are some signs of storage disorders which may help to diagnose GM1 gangliosidosis. The confirmative diagnosis is biochemical assay of beta – galactosidase activity by molecular genetic testing. GLB1 molecular analysis can be done either by chorionic villus or amniotic cells as prenatal diagnosis. There is no specific treatment for GM1 gangliosidosis; treatment is symptomatic as well as supportive. Extremely poor prognosis found in severe infantile form.