Tags

Type your tag names separated by a space and hit enter

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.
Proc Natl Acad Sci U S A. 1978 Aug; 75(8):3979-83.PN

Abstract

Human kidney extracts heated to 60 degrees and devoid of hexosaminidase activity (2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase EC 3.2.1.30) stimulate more than 20-fold the hexosaminidase A-catalyzed degradation of ganglioside GM2 and of glycolipid GA2, the neuronal storage compounds of GM2 gangliosidosis. The stimulating factor of this extract, which is labile at temperatures above 60 degrees, is also present in kidney extracts from patients with infantile GM2 gangliosidosis having a deficiency of hexosaminidase A (Tay-Sachs disease, variant B) and a deficiency of hexosaminidases A and B (variant 0). Evidence is presented that this factor is defective in the AB-variant of infantile GM2 gangliosidosis which is characterized by an accumulation of glycolipids GM2 and GA2 despite the fact that the degrading enzymes, hexosaminidases A and B, retain normal activity levels. Thus, variant AB is an example of a fatal lipid storage disease that is caused not by a defect of a degrading enzyme but rather by a defective factor necessary for the interaction of lipid substrates and the water-soluble hydrolase.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

99746

Citation

Conzelmann, E, and K Sandhoff. "AB Variant of Infantile GM2 Gangliosidosis: Deficiency of a Factor Necessary for Stimulation of Hexosaminidase A-catalyzed Degradation of Ganglioside GM2 and Glycolipid GA2." Proceedings of the National Academy of Sciences of the United States of America, vol. 75, no. 8, 1978, pp. 3979-83.
Conzelmann E, Sandhoff K. AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. Proc Natl Acad Sci USA. 1978;75(8):3979-83.
Conzelmann, E., & Sandhoff, K. (1978). AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. Proceedings of the National Academy of Sciences of the United States of America, 75(8), 3979-83.
Conzelmann E, Sandhoff K. AB Variant of Infantile GM2 Gangliosidosis: Deficiency of a Factor Necessary for Stimulation of Hexosaminidase A-catalyzed Degradation of Ganglioside GM2 and Glycolipid GA2. Proc Natl Acad Sci USA. 1978;75(8):3979-83. PubMed PMID: 99746.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. AU - Conzelmann,E, AU - Sandhoff,K, PY - 1978/8/1/pubmed PY - 1978/8/1/medline PY - 1978/8/1/entrez SP - 3979 EP - 83 JF - Proceedings of the National Academy of Sciences of the United States of America JO - Proc. Natl. Acad. Sci. U.S.A. VL - 75 IS - 8 N2 - Human kidney extracts heated to 60 degrees and devoid of hexosaminidase activity (2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase EC 3.2.1.30) stimulate more than 20-fold the hexosaminidase A-catalyzed degradation of ganglioside GM2 and of glycolipid GA2, the neuronal storage compounds of GM2 gangliosidosis. The stimulating factor of this extract, which is labile at temperatures above 60 degrees, is also present in kidney extracts from patients with infantile GM2 gangliosidosis having a deficiency of hexosaminidase A (Tay-Sachs disease, variant B) and a deficiency of hexosaminidases A and B (variant 0). Evidence is presented that this factor is defective in the AB-variant of infantile GM2 gangliosidosis which is characterized by an accumulation of glycolipids GM2 and GA2 despite the fact that the degrading enzymes, hexosaminidases A and B, retain normal activity levels. Thus, variant AB is an example of a fatal lipid storage disease that is caused not by a defect of a degrading enzyme but rather by a defective factor necessary for the interaction of lipid substrates and the water-soluble hydrolase. SN - 0027-8424 UR - https://wwww.unboundmedicine.com/medline/citation/99746/AB_variant_of_infantile_GM2_gangliosidosis:_deficiency_of_a_factor_necessary_for_stimulation_of_hexosaminidase_A_catalyzed_degradation_of_ganglioside_GM2_and_glycolipid_GA2_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/99746/ DB - PRIME DP - Unbound Medicine ER -