A
A.-M. Douar
Researcher at French Institute of Health and Medical Research
Publications - 12
Citations - 1444
A.-M. Douar is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Adrenoleukodystrophy & Adeno-associated virus. The author has an hindex of 8, co-authored 9 publications receiving 1375 citations.
Papers
More filters
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
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
Anna Buj-Bello,Françoise Fougerousse,Yannick Schwab,Nadia Messaddeq,Danièle Spehner,Christopher R. Pierson,Muriel Durand,Christine Kretz,Olivier Danos,A.-M. Douar,Alan H. Beggs,Patrick Schultz,Marie Montus,Patrice Denefle,Jean-Louis Mandel +14 more
TL;DR: A single intramuscular injection of this vector in symptomatic Mtm1-deficient mice ameliorates the pathological phenotype in the targeted muscle and provides a proof-of-principle that local delivery of an AAV vector expressing myotubularin can improve the motor capacities of XLMTM muscle.
Journal ArticleDOI
Adeno-associated virus pseudotype 5 vector improves gene transfer in arthritic joints.
Florence Apparailly,Maroun Khoury,MJ Vervoordeldonk,J. Adriaansen,E. Gicquel,Norma Perez,Christel Rivière,Pascale Louis-Plence,Danièle Noël,Olivier Danos,A.-M. Douar,Paul P. Tak,Christian Jorgensen +12 more
TL;DR: In this paper, the transduction efficiency of different AAV serotypes encoding murine secreted alkaline phosphatase (mSEAP) or Escherichia coli beta-galactosidase for intraarticular gene delivery in an experimental model of rheumatoid arthritis was compared.
Journal ArticleDOI
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
Nathalie Cartier,Claude-Olivier Sarde,A.-M. Douar,Jean Mosser,Jean-Louis Mandel,Patrick Aubourg +5 more
TL;DR: Messenger RNA expression in fibroblasts from 6 unrelated ALD patients is reported, providing further evidence that this candidate gene is indeed the ALD gene.
Journal ArticleDOI
Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.
TL;DR: Using positional cloning strategies, a gene which was found partially deleted in 7% of 85 independent patients with ALD is identified and encodes a putative peroxisomal transporter molecule which may be involved in the import or anchoring of VLCFA-CoA synthetase.