Neurology®
The most widely read and highly cited peer-reviewed Neurology journal
Quick Search
Advanced Search
This Article
Right arrow Full Text
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
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 Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Hayward, C.
Right arrow Articles by Brock, D. J. H.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hayward, C.
Right arrow Articles by Brock, D. J. H.
Neurology 1999;52:1899
© 1999 American Academy of Neurology
Brief Communications

Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

Caroline Hayward, PhD, Shuna Colville, BSc, Robert J. Swingler, MD and David J. H. Brock, PhD

From the Human Genetics Unit (Drs. Hayward and Brock), Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Edinburgh; and Department of Neurology (S. Colville and Dr. Swingler), Ninewells Hospital, Dundee, Scotland.

Address correspondence and reprint requests to Dr. Caroline Hayward, Human Genetics Unit, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, Scotland.

We analyzed genomic DNA from ALS patients for mutations in the apurinic/apyrimidinic endonuclease (APEX nuclease) gene. We identified three rare polymorphisms in the untranslated region of the gene and one common two-allele polymorphism (D148E). The allelic frequency D148E was significantly different in sporadic ALS patients compared with controls. A conserved amino acid change and a 4-base pair deletion were also identified in sporadic ALS patients. These data suggest that APEX nuclease may contribute to the etiology of ALS.




This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
J.C. Schymick, K. Talbot, and B.J. Traynor
Genetics of sporadic amyotrophic lateral sclerosis
Hum. Mol. Genet., October 15, 2007; 16(R2): R233 - R242.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. J. Greenway, M. D. Alexander, S. Ennis, B. J. Traynor, B. Corr, E. Frost, A. Green, and O. Hardiman
A novel candidate region for ALS on chromosome 14q11.2
Neurology, November 23, 2004; 63(10): 1936 - 1938.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Epidemiol. Biomarkers Prev.Home page
H. W. Mohrenweiser, T. Xi, J. Vazquez-Matias, and I. M. Jones
Identification of 127Amino Acid Substitution Variants in Screening 37 DNA Repair Genes in Humans
Cancer Epidemiol. Biomarkers Prev., October 1, 2002; 11(10): 1054 - 1064.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
R. W. Orrell and D. A. Figlewicz
Clinical implications of the genetics of ALS and other motor neuron diseases
Neurology, July 10, 2001; 57(1): 9 - 17.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
M. Z. Hadi, M. A. Coleman, K. Fidelis, H. W. Mohrenweiser, and D. M. Wilson III
Functional characterization of Ape1 variants identified in the human population
Nucleic Acids Res., October 15, 2000; 28(20): 3871 - 3879.
[Abstract] [Full Text] [PDF]