Literature DB >> 3860470

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

A Ballabio, G Parenti, E Napolitano, P Di Natale, G Andria.   

Abstract

Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the unfused cocultivated cells. The occurrence of complementation further supports the hypothesis that at least two different loci control the expression of steroid sulphatase in the human genome.

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Year:  1985        PMID： 3860470     DOI： 10.1007/bf00295367

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


  11 in total

1.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

2.  Steroid sulphatase deficiency. Steroid sulphatase and arylsulphatase C determination in normal and affected fibroblasts.

Authors:  M Piraud; M T Zabot; I Maire
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  X-linked ichthyosis due to steroid-sulphatase deficiency.

Authors:  D Webster; J T France; L J Shapiro; R Weiss
Journal:  Lancet       Date:  1978-01-14       Impact factor: 79.321

4.  Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?

Authors:  M B Fiddler; D Vine; E Shapira; H L Nadler
Journal:  Nature       Date:  1979-11-01       Impact factor: 49.962

5.  Genetic complementation studies of multiple sulfatase deficiency.

Authors:  A L Horwitz
Journal:  Proc Natl Acad Sci U S A       Date:  1979-12       Impact factor: 11.205

6.  Enhanced breakdown of arylsulfatase A in multiple sulfatase deficiency.

Authors:  A Waheed; A Hasilik; K von Figura
Journal:  Eur J Biochem       Date:  1982-04-01

7.  Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients.

Authors:  A Ballabio; R Pallini; P Di Natale
Journal:  Clin Genet       Date:  1984-02       Impact factor: 4.438

8.  Biochemical variability of arylsulphatases -A, -B and -C in cultured fibroblasts from patients with multiple sulphatase deficiency.

Authors:  P L Chang; N E Rosa; S R Ballantyne; R G Davidson
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

9.  Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.

Authors:  P L Chang; R G Davidson
Journal:  Proc Natl Acad Sci U S A       Date:  1980-10       Impact factor: 11.205

10.  Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts.

Authors:  A d'Azzo; D J Halley; A Hoogeveen; H Galjaard
Journal:  Am J Hum Genet       Date:  1980-07       Impact factor: 11.025
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  7 in total

1.  Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

Authors:  A Ballabio; G Parenti; R Carrozzo; G Sebastio; G Andria; V Buckle; N Fraser; I Craig; M Rocchi; G Romeo
Journal:  Proc Natl Acad Sci U S A       Date:  1987-07       Impact factor: 11.205

2.  X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.

Authors:  A Ballabio; G Parenti; P Tippett; C Mondello; S Di Maio; A Tenore; G Andria
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

3.  A fluorimetric assay of steroid sulphatase in leukocytes: evidence for two genetically different enzymes with arylsulphatase C activity.

Authors:  O P van Diggelen; A E Konstantinidou; M T Bousema; M Boer; T Bakx; A C Jöbsis
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

Authors:  E Basler; M Grompe; G Parenti; J Yates; A Ballabio
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

5.  Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.

Authors:  W Rommerskirch; K von Figura
Journal:  Proc Natl Acad Sci U S A       Date:  1992-04-01       Impact factor: 11.205

6.  Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Authors:  A Ballabio; G Sebastio; R Carrozzo; G Parenti; A Piccirillo; M G Persico; G Andria
Journal:  Hum Genet       Date:  1987-12       Impact factor: 4.132

Review 7.  Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.

Authors:  Lars Schlotawa; Laura A Adang; Karthikeyan Radhakrishnan; Rebecca C Ahrens-Nicklas
Journal:  Int J Mol Sci       Date:  2020-05-13       Impact factor: 5.923
  7 in total

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