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 (56)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Cartier, N.
Right arrow Articles by Aubourg, P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Cartier, N.
Right arrow Articles by Aubourg, P.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1993 Oxford University Press

RESEARCH-ARTICLE

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy

Nathalie Cartier, Claude-Olivier Sarde1, Anne-Marie Douar, Jean Mosser1, jean-Louis Mandel1 and Patrick Aubourg*

INSERM U342, Hòpital Saint Vincent de Paul 82 avenue Denfert-Rochereau, 75014 Paris 1Laboratoire de Génétique Mooléculaire des Eucaryotes du CNRS-INSERM U184, Faculté de Médeane 11 rue Humann, 67085 Strasbourg, France

*To whom correspondence should be addressed

Received July 20, 1993; Revised August 20, 1993; Accepted August 20, 1993

A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified vla positional cloning strategies. We now report messenger RNA expression in flbroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a deletion of 1.6 kb had a smaller 4.0 kb transcript. The last patient had a normal sized transcript and a missense mutation at base 1258 leading to Glu-291-Lys substitution in a region of the candidate gene protein which is conserved in the 70 kD peroxisomal membrane protein. These results provide further evidence that this candidate gene is indeed the ALD gene.


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 BiochemHome page
X.-Q. Ren, T. Furukawa, M. Yamamoto, S. Aoki, M. Kobayashi, M. Nakagawa, and S.-i. Akiyama
A Functional Role of Intracellular Loops of Human Multidrug Resistance Protein 1
J. Biochem., September 1, 2006; 140(3): 313 - 318.
[Abstract] [Full Text] [PDF]

Home page
 J. Lipid Res.Home page
M. Y. Golovko and E. J. Murphy
Uptake and metabolism of plasma-derived erucic acid by rat brain
J. Lipid Res., June 1, 2006; 47(6): 1289 - 1297.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
H. Takano, R. Koike, O. Onodera, R. Sasaki, and S. Tsuji
Mutational Analysis and Genotype-Phenotype Correlation of 29 Unrelated Japanese Patients With X-linked Adrenoleukodystrophy
Arch Neurol, March 1, 1999; 56(3): 295 - 300.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
A. Uchiyama, T. Aoyama, K. Kamijo, Y. Uchida, N. Kondo, T. Orii, and T. Hashimoto
Molecular Cloning of cDNA Encoding Rat Very Long-chain Acyl-CoA Synthetase
J. Biol. Chem., November 29, 1996; 271(48): 30360 - 30365.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
N. Shani, A. Sapag, and D. Valle
Characterization and Analysis of Conserved Motifs in a Peroxisomal ATP-binding Cassette Transporter
J. Biol. Chem., April 12, 1996; 271(15): 8725 - 8730.
[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.