Literature DB >> 507054

Normal adult with absent HEX A: immunoreactive HEX A is present.

J S O'Brien, B Geiger.   

Abstract

Fibroblasts from a normal adult with absent hexosaminidase A (HEX A) activity were demonstrated to possess immunoreactive HEX A as measured by GM2 beta-D-N-acetylgalactosaminidase activity which precipitated with specific anti-HEX A antibodies. Possible explanations for the molecular defect are presented.

Entities:  

Mesh：

Substances：

Year:  1979        PMID： 507054      PMCID： PMC1685922     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  13 in total

1.  I-cell disease: biochemical studies.

Authors:  J G Leroy; M W Ho; M C MacBrinn; K Zielke; J Jacob; J S O'Brien
Journal:  Pediatr Res       Date:  1972-10       Impact factor: 3.756

2.  Ganglioside catabolism in hexosaminidase A-deficient adults.

Authors:  J F Tallman; R O Brady; R Navon; B Padeh
Journal:  Nature       Date:  1974-11-15       Impact factor: 49.962

3.  Identification of a possible subunit of hexosaminidase A and B.

Authors:  D Robinson; M Carrol; J L Stirling
Journal:  Nature       Date:  1973-06-15       Impact factor: 49.962

4.  Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

Authors:  R Navon; B Padeh; A Adam
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

5.  Differential assay of human hexosaminidases A and B.

Authors:  N Dance; R G Price; D Robinson
Journal:  Biochim Biophys Acta       Date:  1970-12-29

6.  Immunochemical and biochemical investigation of hexosaminidase S.

Authors:  B Geiger; R Arnon; K Sandhoff
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025

7.  Suggestions for a nomenclature for the GM2 gangliosidoses making certain (possibly unwarrantable) assumptions.

Authors:  J S O'Brien
Journal:  Am J Hum Genet       Date:  1978-11       Impact factor: 11.025

8.  Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblasts.

Authors:  J S O'Brien; G W Norden; A L Miller; R G Frost; T E Kelly
Journal:  Clin Genet       Date:  1977-03       Impact factor: 4.438

9.  Nature of the mutation in adult beta-galactosidase deficient patients.

Authors:  J S O'Brien; A G Norden
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025

10.  Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.

Authors:  J S O'Brien; L Tennant; M L Veath; C R Scott; W E Bucknall
Journal:  Am J Hum Genet       Date:  1978-11       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.