Literature DB >> 6210620

Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate.

T Tønnesen, C Lykkelund, F Güttler.   

Abstract

Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed an increased 35S-sulphate incorporation into acid mucopolysaccharides. When fibroblast cultures from one obligate and two possible carriers of Hunter's syndrome were tested for 35S-sulphate incorporation, the cultures showed either twice the normal 35S-sulphate incorporation into acid mucopolysaccharides in the presence of fructose 1-phosphate or an abnormally high incorporation in the presence as well as in the absence of the sugar phosphate.

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Year:  1982        PMID: 6210620     DOI: 10.1007/bf00569706

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


  30 in total

1.  Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.

Authors:  T Yutaka; A L Fluharty; R L Stevens; H Kihara
Journal:  Am J Hum Genet       Date:  1978-11       Impact factor: 11.025

2.  Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts.

Authors:  G N Sando; E F Neufeld
Journal:  Cell       Date:  1977-11       Impact factor: 41.582

Review 3.  X-chromosome inactivation and developmental patterns in mammals.

Authors:  M F Lyon
Journal:  Biol Rev Camb Philos Soc       Date:  1972-01

4.  Excretion-reuptake route of beta-hexosaminidase in normal and I-cell disease cultured fibroblasts.

Authors:  G D Vladutiu; M C Rattazzi
Journal:  J Clin Invest       Date:  1979-04       Impact factor: 14.808

5.  Demonstration of the heterozygous state in Hunter's syndrome.

Authors:  C W Booth; H L Nadler
Journal:  Pediatrics       Date:  1974-03       Impact factor: 7.124

6.  Intercellular exchange of lysosomal hydrolases between mutant human fibroblasts and other cell types.

Authors:  D J Halley; N Sacchi; A d'Azzo; A J Reuser; H Galjaard
Journal:  Exp Cell Res       Date:  1980-10       Impact factor: 3.905

7.  Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

Authors:  A Hasilik; E F Neufeld
Journal:  J Biol Chem       Date:  1980-05-25       Impact factor: 5.157

8.  Prenatal monitoring for the Hunter syndrome: the heterozygous female fetus.

Authors:  W J Kleijer; P D Moody; I Liebaers; J J van de Kamp; M F Niermeijer
Journal:  Clin Genet       Date:  1979-02       Impact factor: 4.438

9.  Structural studies of phosphorylated high mannose-type oligosaccharides.

Authors:  A Varki; S Kornfeld
Journal:  J Biol Chem       Date:  1980-11-25       Impact factor: 5.157

10.  Fibroblast receptor for lysosomal enzymes mediates pinocytosis of multivalent phosphomannan fragment.

Authors:  H D Fischer; M Natowicz; W S Sly; R K Bretthauer
Journal:  J Cell Biol       Date:  1980-01       Impact factor: 10.539

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  7 in total

1.  Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.

Authors:  K M Timms; F J Edwards; J W Belmont; J R Yates; R A Gibbs
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

2.  Reliability of the Tønnesen technique for the identification of Hunter carriers.

Authors:  L Petruschka; G Machill; M Wehnert; G Seidlitz; A Knapp
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  The use of fructose 1-phosphate to detect Hunter heterozygotes in fibroblast cultures from high-risk carriers.

Authors:  T Tønnesen
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.

Authors:  W Schröder; L Petruschka; M Wehnert; M Zschiesche; G Seidlitz; J J Hopwood; F H Herrmann
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

5.  Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Authors:  I V D Schwartz; L L C Pinto; G Breda; L Lima; M G Ribeiro; J G Mota; A X Acosta; P Correia; D D G Horovitz; C G G Porciuncula; E Lipinski-Figueiredo; A C Fett-Conte; R P Oliveira Sobrinho; D Y J Norato; A C Paula; C A Kim; A R Duarte; R Boy; S Leistner-Segal; M G Burin; R Giugliani
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

6.  Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome.

Authors:  T Tønnesen; F Güttler; C Lykkelund
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and alpha 1-antitrypsin deficiency.

Authors:  J B Nielsen; F Güttler; N Hobolth; T Tønnesen; O D Pedersen; C Lykkelund; F Rosleff
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183

  7 in total

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