C
Claude-Olivier Sarde
Researcher at French Institute of Health and Medical Research
Publications - 15
Citations - 1907
Claude-Olivier Sarde is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Adrenoleukodystrophy & Gene. The author has an hindex of 11, co-authored 15 publications receiving 1845 citations.
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Journal ArticleDOI
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Jean Mosser,A.-M. Douar,Claude-Olivier Sarde,Petra Kioschis,Robert Feil,Hugo W. Moser,Annemarie Poustka,Jean-Louis Mandel,Patrick Aubourg +8 more
TL;DR: In this paper, the authors used positional cloning to identify a gene partially deleted in 6 of 85 independent patients with Adrenoleukodystrophy (ALD) and two identical deletions were detected in two brothers presenting with different clinical ALD phenotypes.
Journal ArticleDOI
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern
TL;DR: The cloning and characterization of a mouse ALD-related gene (ALDR) is described, which codes for a protein with 66% identity with ALDP and shares the same half transporter structure.
Journal Article
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
Marjolijn J. L. Ligtenberg,Stephan Kemp,Claude-Olivier Sarde,B.M. van Geel,W.J. Kleijer,Peter G. Barth,Jean-Louis Mandel,B.A. van Oost,Pieter A. Bolhuis +8 more
TL;DR: Systematic analysis of the open reading frame of the ALD gene, using reverse transcriptase-PCR, followed by direct sequencing, revealed mutations in all 28 unrelated kindreds analyzed, suggesting that this gene is the only gene responsible for X-linked ALD.
Journal Article
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
V Feigenbaum,G Lombard-Platet,S Guidoux,Claude-Olivier Sarde,Jean-Louis Mandel,Patrick Aubourg +5 more
TL;DR: The immunodetection of ALDP in white blood cells can be applicable in a majority of ALD kindred, to identify heterozygous women, particularly when the ALD gene mutation has not yet been identified.
Journal ArticleDOI
Genomic organization of the adrenoleukodystrophy gene.
Claude-Olivier Sarde,Jean Mosser,Petra Kioschis,Christine Kretz,Serge Vicaire,Patrick Aubourg,Annemarie Poustka,Jean-Louis Mandel +7 more
TL;DR: The frequent occurrence of color vision anomalies observed in patients with adrenomyeloneuropathy thus does not represent a contiguous gene syndrome but a secondary manifestation of ALD, and a detailed characterization of the ALD gene structure is reported.