Aubourg, Patrick

Enzyme, cell and gene‐based therapies for metachromatic leukodystrophy

Sevin, C., Aubourg, P., & Cartier, N. (2007) · Journal of Inherited Metabolic Disease

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 88

Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy

Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., & Aubourg, P. (2005) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 86

Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines

Troffer-Charlier, N., Doerflinger, N., Metzger, E., Fouquet, F., Mandel, J.-L., & Aubourg, P. (1998) · European Journal of Cell Biology

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 85

Genomic organization of the adrenoleukodystrophy gene

Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., & Mandel, J.-L. (1994) · Genomics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 82

Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy

Kühl, J.-S., Suarez, F., Gillett, G. T., Hemmati, P. G., Snowden, J. A., Stadler, M., Vuong, G. L., Aubourg, P., Köhler, W., & Arnold, R. (2017) · Brain

Lysosomal Storage Disorders ResearchMultiple Sclerosis Research Studies

Cited by 78

Neonatal adrenoleukodystrophy

Aubourg, P., Scotto, J., Rocchiccioli, F., Feldmann-Pautrat, D., & Robain, O. (1986) · Journal of Neurology, Neurosurgery & Psychiatry

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 77

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients

Ayrignac, X., Carra-Dalliere, C., Menjot de Champfleur, N., Denier, C., Aubourg, P., Bellesme, C., Castelnovo, G., Pelletier, J., Audoin, B., Kaphan, E., et al. (2015) · Brain

Cerebrovascular and genetic disordersMetabolism and Genetic Disorders

Cited by 74

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

Schlüter, A., Espinosa, L., Fourcade, S., Galino, J., López, E., Ilieva, E., Morató, L., Asheuer, M., Cook, T., McLaren, A., et al. (2012) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 72

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Sevin, C., Ferdinandusse, S., Waterham, H. R., Wanders, R. J., & Aubourg, P. (2011) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersGenetic Neurodegenerative Diseases

Cited by 66

Peroxisomes, myelination, and axonal integrity in the CNS

Baes, M., & Aubourg, P. (2009) · The Neuroscientist

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 65

Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice

Benhamida, S., Pflumio, F., Dubart-Kupperschmitt, A., Zhao-Emonet, J.-C., Cavazzana-Calvo, M., Rocchiccioli, F., Fichelson, S., Aubourg, P., Charneau, P., & Cartier, N. (2003) · Molecular Therapy

Virus-based gene therapy researchLysosomal Storage Disorders Research

Cited by 61

X-linked adrenoleukodystrophy

AUBOURG, P., & MANDEL, J. (1996) · Annals of the New York Academy of Sciences

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 58

Comparative Efficacy and Safety of Multiple Routes of Direct CNS Administration of Adeno-Associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human Arylsulfatase A cDNA to Nonhuman Primates

Rosenberg, J. B., Sondhi, D., Rubin, D. G., Monette, S., Chen, A., Cram, S., De, B. P., Kaminsky, S. M., Sevin, C., Aubourg, P., et al. (2014) · Human Gene Therapy Clinical Development

Virus-based gene therapy researchLysosomal Storage Disorders Research

Cited by 58

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

Cartier, N., Sarde, C.-O., Douar, A.-M., Mosser, J., Mandel, J.-L., & Aubourg, P. (1993) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 55

Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype

Omer Javed, A., Li, Y., Muffat, J., Su, K.-C., Cohen, M. A., Lungjangwa, T., Aubourg, P., Cheeseman, I. M., & Jaenisch, R. (2018) · Cell Reports

Microtubule and mitosis dynamicsNeurogenesis and neuroplasticity mechanisms

Cited by 46

Capillary gas-liquid chromatographic-mass spectrometric measurement of very long chain (C22 to C26) fatty acids in microliter samples of plasma

Aubourg, P., Bougnères, P. F., & Rocchiccioli, F. (1985) · Journal of Lipid Research

Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies

Cited by 45

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

Kemp, S., Mooyer, P. A. W., Bolhuis, P. A., van Geel, B. M., Mandel, J. L., Barth, P. G., Aubourg, P., & Wanders, R. J. A. (1996) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 37

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

Matsukawa, T., Asheuer, M., Takahashi, Y., Goto, J., Suzuki, Y., Shimozawa, N., Takano, H., Onodera, O., Nishizawa, M., Aubourg, P., et al. (2011) · neurogenetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 36

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

Maier, E. M., Mayerhofer, P. U., Asheuer, M., Köhler, W., Rothe, M., Muntau, A. C., Roscher, A. A., Holzinger, A., Aubourg, P., & Berger, J. (2008) · Biochemical and Biophysical Research Communications

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 34

Genetic variants of methionine metabolism and X-ALD phenotype generation: Results of a new study sample

Semmler, A., Bao, X., Cao, G., Köhler, W., Weller, M., Aubourg, P., & Linnebank, M. (2009) · Journal of Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 30

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids

van Engen, C. E., Ofman, R., Dijkstra, I. M. E., van Goethem, T. J., Verheij, E., Varin, J., Vidaud, M., Wanders, R. J. A., Aubourg, P., Kemp, S., et al. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 26

Adrenoleukodystrophy: the most frequent genetic cause of Addison’s disease

Aubourg, P., & Chaussain, J.-L. (2003) · Hormone Research in Paediatrics

Adrenal Hormones and DisordersMetabolism and Genetic Disorders

Cited by 19

CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy

Barbier, M., Sabbagh, A., Kasper, E., Asheuer, M., Ahouansou, O., Pribill, I., Forss-Petter, S., Vidaud, M., Berger, J., & Aubourg, P. (2012) · PLoS ONE

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 18

Contribution of MRI to the diagnosis of cerebral lesions of adrenoleukodystrophy

Pasco, A., Kalifa, G., Sarrazin, J. L., Adamsbaum, C., & Aubourg, P. (1991) · Pediatric Radiology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 16