X-linked adrenoleukodystrophy.
- P. Aubourg, J. Mandel
- Medicine, BiologyAnnals of the New York Academy of Sciences
- 29 May 2007
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
- N. Cartier, S. Hacein-Bey-Abina, P. Aubourg
- Medicine, BiologyScience
- 6 November 2009
Lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in ALD, and progressive cerebral demyelination in the two patients stopped, a clinical outcome comparable to that achieved by allogeneic HCT.
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
- J. Mosser, A. Douar, P. Aubourg
- Biology, MedicineNature
- 25 February 1993
ADRENOLEUKODYSTROPHY (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults1. Childhood ALD is the more severe form,…
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia
- M. Cavazzana‐Calvo, E. Payen, P. Leboulch
- Biology, MedicineNature
- 16 September 2010
It is shown that, 33 months after lentiviral β-globin gene transfer, an adult patient with severe βE/β0-thalassaemia dependent on monthly transfusions since early childhood has become transfusion independent for the past 21 months.
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
- M. Engelen, S. Kemp, B. Poll-The
- Medicine, BiologyOrphanet Journal of Rare Diseases
- 13 August 2012
This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.
Efficient derivation of microglia-like cells from human pluripotent stem cells
- J. Muffat, Yun Li, R. Jaenisch
- BiologyNature Network Boston
- 1 September 2016
A robust and efficient protocol for the rapid production of microglia-like cells from human (h) embryonic stem (ES) and induced pluripotent stem (iPS) cells that uses defined serum-free culture conditions is established and a platform to study the integration and live behavior of pMGLs in organotypic 3D cultures is described.
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
- M. Moreira, S. Klur, M. Koenig
- Biology, MedicineNature Genetics
- 8 February 2004
The causative mutations in AOA2 are identified in 15 families, which allows this entity to be clinically defined by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein.
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.
- C. Peters, L. Charnas, W. Krivit
- Medicine, PsychologyBlood
- 1 August 2004
It is concluded that boys with early-stage disease benefit from HCT, whereas boys with advanced disease may be candidates for experimental therapies.
Case definition and classification of leukodystrophies and leukoencephalopathies.
- A. Vanderver, M. Prust, M. S. van der Knaap
- MedicineMolecular Genetics and Metabolism
- 1 April 2015
Hematopoietic Stem‐Cell Gene Therapy for Cerebral Adrenoleukodystrophy
- F. Eichler, C. Duncan, David A. Williams
- MedicineNew England Journal of Medicine
- 4 October 2017
Early results of this study suggest that Lenti‐D gene therapy may be a safe and effective alternative to allogeneic stem‐cell transplantation in boys with early‐stage cerebral adrenoleukodystrophy.
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