Literature DB >> 417993

Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion.

S Wood.   

Abstract

Juvenile Sandhoff, Sandhoff, and Tay-Sachs fibroblasts were mixed in paired combinations and treated with polyethylene glycol (PEG) to promote cell fusion. The hexosaminidase (hex) isozymes of PEG-treated mixed-cell cultures were determined and compared with those of untreated control cultures. Fusions involving juvenile Sandhoff and Sandhoff fibroblasts did not show an increase in either total hexosaminidase or heat-stable hex B. Fusions of juvenile Sandhoff (or Sandhoff) and Tay-Sachs fibroblasts showed an increase of heat-labile hex A. Thus, juvenile Sandhoff cells show complementation with Tay-Sachs cells but not Sandhoff cells. Consequently, the genetic defect in juvenile Sandhoff disease probably represents an allelic mutation of the gene that is defective in Sandhoff disease.

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Year:  1978        PMID： 417993     DOI： 10.1007/bf00284766

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  Genetic complementation after fusion of Tay-Sachs and Sandhoff cells.

Authors:  G H Thomas; H A Taylor; C S Miller; J Axelman; B R Migeon
Journal:  Nature       Date:  1974-08-16       Impact factor: 49.962

2.  Tay-Sachs and Sandhoff's disease: intergenic complementation after somatic cell hybridization.

Authors:  H Galjaard; A Hoogeveen; H A de Wit-Verbeek; A J Reuser; W Keijzer; A Westerveld; D Bootsma
Journal:  Exp Cell Res       Date:  1974-08       Impact factor: 3.905

3.  Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.

Authors:  K Sandhoff; U Andreae; H Jatzkewitz
Journal:  Life Sci       Date:  1968-03-15       Impact factor: 5.037

4.  Complementation after fusion of Sandhoff- and Tay-Sachs fibroblasts.

Authors:  H H Ropers; K H Grzeschik; E Bühler
Journal:  Humangenetik       Date:  1975

5.  Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts.

Authors:  S Wood; B G MacDougall
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

6.  Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.

Authors:  M C Rattazzi; J A Brown; R G Davidson; T B Shows
Journal:  Cytogenet Cell Genet       Date:  1975

7.  Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B.

Authors:  B Geiger; R Arnon
Journal:  Biochemistry       Date:  1976-08-10       Impact factor: 3.162

8.  Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.

Authors:  M C Rattazzi; J A Brown; R G Davidson; T B Shows
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

9.  Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

Authors:  E Beutler; W Kuhl; D Comings
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

10.  Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.

Authors:  P M MacLeod; S Wood; J E Jan; D A Applegarth; C L Dolman
Journal:  Neurology       Date:  1977-06       Impact factor: 9.910
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  7 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.

Authors:  B F O'Dowd; F Quan; H F Willard; A M Lamhonwah; R G Korneluk; J A Lowden; R A Gravel; D J Mahuran
Journal:  Proc Natl Acad Sci U S A       Date:  1985-02       Impact factor: 11.205

Review 3.  The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Authors:  Gustavo H B Maegawa; Tracy Stockley; Michael Tropak; Brenda Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don Mahuran; Joe T R Clarke
Journal:  Pediatrics       Date:  2006-10-02       Impact factor: 7.124

4.  Analysis of genetic complementation by whole-cell microtechniques in fibroblast heterokaryons.

Authors:  R A Gravel; A Leung; M Saunders; P Hösli
Journal:  Proc Natl Acad Sci U S A       Date:  1979-12       Impact factor: 11.205

5.  Evidence for two dissimilar polypeptide chains in the beta 2 subunit of hexosaminidase.

Authors:  D J Mahuran; F Tsui; R A Gravel; J A Lowden
Journal:  Proc Natl Acad Sci U S A       Date:  1982-03       Impact factor: 11.205

6.  Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.

Authors:  J T Clarke; W L Greer; P M Strasberg; R D Pearce; M A Skomorowski; P N Ray
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

7.  Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Authors:  K Neote; B McInnes; D J Mahuran; R A Gravel
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808
  7 in total

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