Skip Navigation

This Article
Right arrow Full Text (PDF)
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 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 (19)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Peltola, M.
Right arrow Articles by Jalanko, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Peltola, M.
Right arrow Articles by Jalanko, A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1994 Oxford University Press

OTHER

Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon

Minna Peltola, David Chiatayat1, Leena Peltonen and Anu Jalanko*

Department of Human Molecular Genetics, National Public Health Institute Mannerheimintie 166, FIN-00300 Helsinki, Finland 1The Montreal Children's Hospital 2300 Tupper Street, Montreal, Quebec H3H 1P3, Canada

*To whom correspondence should be addressed

Received September 27, 1994; Accepted October 9, 1994

We have identified a novel aspartylglucosaminuria (AGU) mutation In the second exon of the aspartyl-glucosaminldase (AGA) gene resulting In a lysosomal storage disease In a Puerto Rican pedigree. This T192->A transverslon causes replacement of Cys64 with a premature translatlonal stop codon and the patients' flbroblasts exhibit dramatically decreased steady-state levels of AGA mRNA. Immunofluorescence analysis and analysis of immunopreclpltated metabolically labelled AGA polypeptides from patient fibroblasts unexpectedly revealed traces of normally sized inactive AGA precursor polypeptide Instead of the predicted short polypeptide of 40 amlno acids, thus demonstrating readthrough due to suppression of the premature translational stop codon. The translated AGA precursor is not processed further and remains Inactive. The Cys64 substitution evidently disturbs the folding of the nascent polypeptide in the endoplasmlc reticulum, thus preventing activation by proteolytic cleavage.


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
 J. Immunol.Home page
D. J. Davidson, A. J. Currie, D. M. E. Bowdish, K. L. Brown, C. M. Rosenberger, R. C. Ma, J. Bylund, P. A. Campsall, A. Puel, C. Picard, et al.
IRAK-4 Mutation (Q293X): Rapid Detection and Characterization of Defective Post-Transcriptional TLR/IL-1R Responses in Human Myeloid and Non-Myeloid Cells
J. Immunol., December 1, 2006; 177(11): 8202 - 8211.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
H. Beier and M. Grimm
Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs
Nucleic Acids Res., December 1, 2001; 29(23): 4767 - 4782.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. Saarela, M. Laine, C. Oinonen, C. v. Schantz, A. Jalanko, J. Rouvinen, and L. Peltonen
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations
Hum. Mol. Genet., April 1, 2001; 10(9): 983 - 995.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
A. Kyttala, O. Heinonen, L. Peltonen, and A. Jalanko
Expression and Endocytosis of Lysosomal Aspartylglucosaminidase in Mouse Primary Neurons
J. Neurosci., October 1, 1998; 18(19): 7750 - 7756.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
J. Weinstein, S. Sundaram, X. Wang, D. Delgado, R. Basu, and P. Stanley
A Point Mutation Causes Mistargeting of Golgi GlcNAc-TV in the Lec4A Chinese Hamster Ovary Glycosylation Mutant
J. Biol. Chem., November 1, 1996; 271(44): 27462 - 27469.
[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.