The use of tears for diagnosis of GM1 gangliosidosis

Tsuboyama, A; Futaba, Miki; Yoshida, Masaki; Ogura, Yutaka; Miyatake, Tadashi

doi:10.1016/0009-8981(77)90030-4

Cited by 8 publications

(1 citation statement)

References 9 publications

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“…N , N ‐Dimethylethylenediamine was synthesized using ethanol amine in accordance with references, as illustrated in Scheme . Boiling point: 97–102 °C.…”

Section: Methodsmentioning

confidence: 99%

One‐step synthesis of 6‐acetamido‐3‐(N‐(2‐(dimethylamino) ethyl) sulfamoyl) naphthalene‐1‐yl 7‐acetamido‐4‐hydroxynaphthalene‐2‐sulfonate and its characterization with 1D and 2D NMR techniques

Zhang

2013

Magnetic Reson in Chemistry

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A one-step method was reported for the synthesis of 6-acetamido-3-(N-(2-(dimethylamino) ethyl) sulfamoyl) naphthalene-1-yl 7-acetamido-4-hydroxynaphthalene-2-sulfonate by treating 7-acetamido-4-hydroxy-2-naphthalenesulfonyl chloride with equal moles of N, N-dimethylethylenediamine in acetonitrile in the presence of K2CO3. The chemical structure of the obtained compounds was characterized by MS, FTIR, (1)H NMR, (13)C NMR, gCOSY, TOCSY, gHSQC, and gHMBC. The chemical shift differences of (1)H and (13)C being δ 0.04 and 0.2, respectively, were unambiguously differentiated.

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“…N , N ‐Dimethylethylenediamine was synthesized using ethanol amine in accordance with references, as illustrated in Scheme . Boiling point: 97–102 °C.…”

Section: Methodsmentioning

confidence: 99%

One‐step synthesis of 6‐acetamido‐3‐(N‐(2‐(dimethylamino) ethyl) sulfamoyl) naphthalene‐1‐yl 7‐acetamido‐4‐hydroxynaphthalene‐2‐sulfonate and its characterization with 1D and 2D NMR techniques

Zhang

2013

Magnetic Reson in Chemistry

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Prenatal Diagnosis of Hereditary Biochemical Disorders of Metabolism

Milunsky

1979

Genetic Disorders and the Fetus

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Biochemistry and Genetics of gangliosidoses

1979

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The gangliosidoses comprise an-ever increasing number of biochemically and phenotypically variant diseases. In most of them an autosomal recessive inherited deficiency of a lysosomal hydrolase results in the fatal accumulation of glucolipids (predominantly in the nervous tissue) and of oligosaccharides. The structure, substrate specificity, immunological properties of and genetic studies on the relevant glycosidases, ganglioside GM1 beta-galactosidase and beta-hexosaminidase isoenzymes, are reviewed in this paper. Contrary to general expectation, only a poor correlation is observed between the severity of the disease and residual activity of the defective enzyme when measured with synthetic or natural substrates in the presence of detergents. For the understanding of variant diseases and for their pre- and postnatal diagnosis, the necessity of studying the substrate specificity of normal and mutated enzymes under conditions similar to the in vivo situation, e.g., with natural substrates in the presence of appropriate activator proteins, is stressed. The possibility that detergents may have adverse affects on the substrate specificity of the enzymes is discussed for the beta-hexosaminidases. The significance of activator proteins for the proper interaction of lipid substrates and water-soluble hydrolases is illustrated by the fatal glycolipid storage resulting from an activator protein deficiency in the AB variant of GM2-gangliosidosis. Recent somatic complementation studies have revealed the existence of a presumably post-translational modification factor necessary for the expression of ganglioside GM1 beta-galactosidase activity. This factor is deficient in a group of variants of GM1-glangliosidosis. Among the possible reasons for the variability of enzyme activity levels in heterozygotes and patients, allelic mutations, formation of hybrid enzymes, and the existence of patients as compound heterozygotes are discussed. All these may result in the production of mutant enzymes with an altered specificity for a variety of natural substrates.

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The use of tears for diagnosis of GM1 gangliosidosis

Cited by 8 publications

References 9 publications

One‐step synthesis of 6‐acetamido‐3‐(N‐(2‐(dimethylamino) ethyl) sulfamoyl) naphthalene‐1‐yl 7‐acetamido‐4‐hydroxynaphthalene‐2‐sulfonate and its characterization with 1D and 2D NMR techniques

One‐step synthesis of 6‐acetamido‐3‐(N‐(2‐(dimethylamino) ethyl) sulfamoyl) naphthalene‐1‐yl 7‐acetamido‐4‐hydroxynaphthalene‐2‐sulfonate and its characterization with 1D and 2D NMR techniques

Prenatal Diagnosis of Hereditary Biochemical Disorders of Metabolism

Biochemistry and Genetics of gangliosidoses

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