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Literature DB >> 2714781

Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase.

T Litjens¹, E G Baker, K R Beckmann, C P Morris, J J Hopwood, D F Callen.

Abstract

A deficiency of N-acetylgalactosamine-4-sulphatase (G4S, gene symbol ARSB), results in the accumulation of undegraded substrate and the lysosomal storage disorder, Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). In situ hybridization using an 3H-labelled human G4S genomic DNA fragment to human metaphase chromosomes localized ARSB to chromosome 5q13-5q14. This location is consistent with, an refines, previous chromosomal assignments based on the expression of human G4S in somatic cell hybrids.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1989 PMID： 2714781 DOI： 10.1007/BF00288275

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

9 in total

1. Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity.

Authors: J J Hopwood; H Elliott; V J Muller; G T Saccone
Journal: Biochem J Date: 1986-03-15 Impact factor: 3.857

2. Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16.

Authors: D F Callen; V J Hyland; E G Baker; A Fratini; R N Simmers; J C Mulley; G R Sutherland
Journal: Genomics Date: 1988-02 Impact factor: 5.736

3. Assignment of a gene for arylsulfatase B to human chromosome 5 using human-mouse somatic cell hybrids.

Authors: B Hellkuhl; K H Grzeschik
Journal: Cytogenet Cell Genet Date: 1978

4. Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B.

Authors: C DeLuca; J A Brown; T B Shows
Journal: Proc Natl Acad Sci U S A Date: 1979-04 Impact factor: 11.205

5. Assignment of the gene for human arylsulfatase B, ARSB, to chromosome region 5p11----5qter.

Authors: E Fidzianska; T Abramowicz; B Czartoryska; I Glogowska; D Gorska; M Rodo
Journal: Cytogenet Cell Genet Date: 1984

6. Regional localization of alpha-galactosidase (GLA) to Xpter----q22, hexosaminidase B (HEXB) to 5q13----qter, and arylsulfatase B (ARSB) to 5pter----q13.

Authors: M F Fox; D L DuToit; L Warnich; A E Retief
Journal: Cytogenet Cell Genet Date: 1984

7. Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5.

Authors: S Dana; J J Wasmuth
Journal: Mol Cell Biol Date: 1982-10 Impact factor: 4.272

8. Human N-acetylgalactosamine-4-sulphate sulphatase. Purification, monoclonal antibody production and native and subunit Mr values.

Authors: G J Gibson; G T Saccone; D A Brooks; P R Clements; J J Hopwood
Journal: Biochem J Date: 1987-12-15 Impact factor: 3.857

9. Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.

Authors: D A Robertson; D F Callen; E G Baker; C P Morris; J J Hopwood
Journal: Hum Genet Date: 1988-06 Impact factor: 4.132

9 in total

22 in total

1. Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI.

Authors: Sean Turbeville; Helen Nicely; J Douglas Rizzo; Tanya L Pedersen; Paul J Orchard; Mitchell E Horwitz; Edwin M Horwitz; Paul Veys; Carmem Bonfim; Amal Al-Seraihy
Journal: Mol Genet Metab Date: 2010-10-25 Impact factor: 4.797

2. Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome.

Authors: M Pineda; M O'Callaghan; A Fernandez Lopez; M J Coll; R Ullot; G Garcia-Fructuoso
Journal: JIMD Rep Date: 2016-02-27

3. Targeting Human Cancer by a Glycosaminoglycan Binding Malaria Protein.

Authors: Ali Salanti; Thomas M Clausen; Mette Ø Agerbæk; Nader Al Nakouzi; Madeleine Dahlbäck; Htoo Zarni Oo; Sherry Lee; Tobias Gustavsson; Jamie R Rich; Bradley J Hedberg; Yang Mao; Line Barington; Marina A Pereira; Janine LoBello; Makoto Endo; Ladan Fazli; Jo Soden; Chris K Wang; Adam F Sander; Robert Dagil; Susan Thrane; Peter J Holst; Le Meng; Francesco Favero; Glen J Weiss; Morten A Nielsen; Jim Freeth; Torsten O Nielsen; Joseph Zaia; Nhan L Tran; Jeff Trent; John S Babcook; Thor G Theander; Poul H Sorensen; Mads Daugaard
Journal: Cancer Cell Date: 2015-10-12 Impact factor: 31.743

4. Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.

Authors: Nayerossadat Nouri; Nargesossadat Nouri; Omid Aryani; Behnam Kamalidehghan; Massoud Houshmand
Journal: Iran Biomed J Date: 2012

5. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Authors: Trisha A Duffey; Martin Sadilek; C Ronald Scott; Frantisek Turecek; Michael H Gelb
Journal: Anal Chem Date: 2010-10-20 Impact factor: 6.986

Review 6. Mucopolysaccharidosis VI.

Authors: Vassili Valayannopoulos; Helen Nicely; Paul Harmatz; Sean Turbeville
Journal: Orphanet J Rare Dis Date: 2010-04-12 Impact factor: 4.123

7. Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis.

Authors: Mayrim L Pérez; Heather A Kridel; Alex Gallagher; Barbara J Sheppard; Shona Reese; Hirotaka Kondo; Rick Alleman; Urs Giger
Journal: Can Vet J Date: 2015-03 Impact factor: 1.008