Biomedical subjects

K Sandhoff

Publications and source records attributed to K Sandhoff.

At least 253 records · Page 14Linked to original sources

PubMed1977

Specificity of human liver hexosaminidases A and B against glycosphingolipids GM2 and GA2. Purification of the enzymes by affinity chromatography employing specific elution.

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Chromatography, Affinity↗

PubMed1977

Immunochemical and biochemical investigation of hexosaminidase S.

Hexosaminidase S (HEX S), the residual isozyme found in tissues and body fluids of children with the O variant of GM2 gangliosidosis, was purified from tissues of variant individuals and biochemically and immunochemically characterized. This enzyme has an apparent molecular weight of 103,000 with an isoelectric point of 4.2, is heat labile to the same extent as HEX A, and loses most of its activity following heating for 30 min at 50 degrees C. HEX S reacts immunologically with the antisera against either HEX A or B, but the reaction is considerably stronger with the anti-A serum or with antibody preparations which react exclusively with the A isozyme. Results obtained by a radioimmunoassay using the various antisera indicated that there is no antigenically cross reacting material which lacks enzymatic activity in the variant tissues. These findings are in accord with a suggested molecular structure of two subunits, each composed of two alpha chains (alpha2 alpha2) for HEX S; it also implies that alpha and beta chains have some structural similarity which is manifested in antigenic cross-reactivity.

Antibodies↗

PubMed1976

[Sphingolipid storage disease as an example of a molecular neuropathology (author's transl)].

A short survey on the sphingolipid storage diseases is presented. The chemical nature of the accumulated substances is related to the genetically induced enzymic blocks on their biodegradation. Two disorders are stressed with alter the nervous system: metachromatic leukodystrophy and familiar infantile amaurotic idiocy (GM2-gangliosidosis). The difficulties in the causal interpretation of three variants of the latter disease due to the involvement of isoenzymes are dealt with. The relationship between the enzyme defect in these disorders and their time of clinical onset is discussed. Finally, the diagnostic possibilities are presented which are a prerequisite for preventing a further dissemination of these therapy-resistent inborn errors of metabolism.

Child, Preschool↗

PubMed1976