Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts
نویسندگان
چکیده
منابع مشابه
Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase.
A full-length human N-acetylgalactosamine-4-sulphatase (4-sulphatase) cDNA clone was constructed and expressed in CHO-DK1 cells under the transcriptional control of the Rous sarcoma virus long terminal repeat. A clonal cell line expressing high activities of human 4-sulphatase was isolated. The maturation and processing of the human enzyme in this transfected CHO cell line showed it to be ident...
متن کاملN-acetylgalactosamine 4-sulphatase protein
Doug A. BROOKS,*: Daniel A. ROBERTSON,* Colleen BINDLOSS,* Tom LITJENS,* Don S. ANSON,* Christoph PETERS,t C. Phillip MORRIS* and John J. HOPWOOD* *Lysosomal Diseases Research Unit, Department of Chemical Pathology, Centre for Medical Genetics, The Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia, 5006, Australia and tBiochemie 11, Universitgt Gottingen, Go...
متن کاملHuman N-acetylgalactosamine-4-sulphatase biosynthesis and maturation in normal, Maroteaux-Lamy and multiple-sulphatase-deficient fibroblasts.
The biosynthesis and maturation of N-acetylgalactosamine-4-sulphatase (4-sulphatase) was studied in normal fibroblasts and in fibroblasts from patients with either mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) or multiple sulphatase deficiency (MSD). Fibroblasts were incubated in culture medium containing [3H]leucine or [35S]methionine, and radiolabelled 4-sulphatase was isola...
متن کاملAn index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for t...
متن کاملPlacental sulphatase deficiency.
INTRODUCTION Placental sulphatase deficiency/congenital ichthyosis is an X-linked inborn error of metabolism which was first described in 1969 by France and Liggins.1 It is an enzymatic defect affecting steroid metabolism, clinically manifested by diminished oestrogen production during fetal life and by congenital ichthyosis post-natally. This disorder has a reported incidence of between 1: 6,0...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Biochemical Journal
سال: 1993
ISSN: 0264-6021,1470-8728
DOI: 10.1042/bj2940657