Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (22)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Bhattacharyya, R.
Right arrow Articles by Stanley, P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Bhattacharyya, R.
Right arrow Articles by Stanley, P.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Glycobiology, 2001, Vol. 11, No. 1 99-103
© 2001 Oxford University Press

A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant

Riddhi Bhattacharyya, Briony Gliddon2, Tommaso Beccari3, John J. Hopwood2 and Pamela Stanley1

Department of Cell Biology, Albert Einstein College Medicine, New York, NY 10461, USA, 2Lysosomal Diseases Research Unit, The Women’s and Children’s Hospital, Adelaide, South Australia, 5006, Australia, and 3Dipartimento di Scienze Biochimiche e Biotecnologie Molecolare Universita di Perugia, Perugia, Italy

Sanfilippo syndrome type III A (Mucopolysaccharidosis (MPS) III A) is a rare, autosomal recessive, lysosomal storage disease, characterized by the accumulation of heparan sulfate and the loss of function of lysosomal heparan N-sulfatase activity. The disease leads to devastating mental and physical consequences and a mouse model that can be used to explore gene therapy and enzyme or cell replacement therapies is needed. We have previously identified a mouse with low sulfamidase activity and symptoms and pathologies typical of MPS III A (Bhaumik, M., Muller, V. J., Rozaklis, T., Johnson, L., Dobrenis, K., Bhattacharyya, R., Wurzelmann, S., Finamore, P., Hopwood, J. J., Walkley, S. U., and Stanley, P. [1999] A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 9, 1389–1396). We now show that the sulfamidase gene of the MPS III A mouse carries a novel mutation (G91A) that gives an amino acid change (D31N) likely to interfere with the coordination of a divalent metal ion in the active site of this sulfatase. This spontaneous mouse mutant is an excellent model for MPS III A in humans as this disease often arises due to a missense mutation in lysosomal sulfamidase.

1 To whom correspondence should be addressed at: Department of Cell Biology, Albert Einstein College Medicine, 1300 Morris Park Avenue, New York, NY 10025


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
C. Settembre, A. Fraldi, L. Jahreiss, C. Spampanato, C. Venturi, D. Medina, R. de Pablo, C. Tacchetti, D. C. Rubinsztein, and A. Ballabio
A block of autophagy in lysosomal storage disorders
Hum. Mol. Genet., January 1, 2008; 17(1): 119 - 129.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. Fraldi, K. Hemsley, A. Crawley, A. Lombardi, A. Lau, L. Sutherland, A. Auricchio, A. Ballabio, and J. J. Hopwood
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
Hum. Mol. Genet., November 15, 2007; 16(22): 2693 - 2702.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.