Patrick Aubourg

Université Paris-Sud — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

33h-index4.6kcitations97works0.02yr avg
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Research Topics

Peroxisome Proliferator-Activated Receptors(35), Metabolism and Genetic Disorders(25), RNA regulation and disease(15), Lysosomal Storage Disorders Research(12), Adipose Tissue and Metabolism(12)

Publications97 total

Vitamin D Status & Latitude Predict Brain Lesions in Adrenoleukodystrophy
2021Open Access
AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A
Nature Communications·2021· 67 citedOpen Access
Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy
Nature Communications·2021· 59 citedOpen Access
Elivaldogene Autotemcel (eli-cel, Lenti-D) Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy: Updated Results from the Phase 2/3 ALD-102 Study and First Report on Safety Outcomes from the Phase 3 ALD-104 Study
Transplantation and Cellular Therapy·2021· 2 cited
Long term AAV2/9-mediated silencing of PMP22 prevents CMT1A disease in rats and validates skin biomarkers as treatment outcome measure
2020· 1 citedOpen Access
Safety of Autologous Hematopoietic Stem Cell Transplantation with Gene Addition Therapy for Transfusion-Dependent β-Thalassemia, Sickle Cell Disease, and Cerebral Adrenoleukodystrophy
Biology of Blood and Marrow Transplantation·2020· 4 cited
Lenti-D Hematopoietic Stem Cell Gene Therapy Stabilizes Neurologic Function in Boys with Cerebral Adrenoleukodystrophy
Biology of Blood and Marrow Transplantation·2020· 1 cited
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion
Neurogenetics·2019· 14 cited
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Journal of Neurology Neurosurgery & Psychiatry·2019· 41 cited
Updated Safety and Efficacy Outcomes from an Ongoing Phase 2/3 Trial of Lenti-D Autologous Hematopoietic Stem Cell Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy
Biology of Blood and Marrow Transplantation·2019· 2 cited
O5‐06‐04: AAV‐CYP46A1 BRAIN DELIVERY MITIGATES ALZHEIMER'S DISEASE: FROM MOUSE MODELS TO NON‐HUMAN PRIMATES
Alzheimer s & Dementia·2018· 2 cited
Lenti-D Hematopoietic Stem Cell Gene Therapy to Arrest Progression of Cerebral Adrenoleukodystrophy: Interim Results of an International Phase 2/3 Trial
Biology of Blood and Marrow Transplantation·2018Open Access
Intracerebral gene therapy in children with metachromatic leukodystrophy: Results of a phase I/II trial
Molecular Genetics and Metabolism·2018· 33 cited
Neuronal Cholesterol Accumulation Induced by Cyp46a1 Down-Regulation in Mouse Hippocampus Disrupts Brain Lipid Homeostasis
Frontiers in Molecular Neuroscience·2017· 29 citedOpen Access
A Somewhat Bizarre Case of Graves Disease Due to Vitamin Treatment
Journal of the Endocrine Society·2017· 28 citedOpen Access
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy
Brain·2017· 73 citedOpen Access
Efficient motor neuron targeting in adult mice by a single lumbar intrathecal r <scp>AAV</scp> 9‐e <scp>GFP</scp> administration: application for motor neuron diseases
European Microscopy Congress 2016: Proceedings·2016· 1 cited
AAV-CYP46A1 brain administration restores cholesterol metabolism and is neuroprotective in Huntington's disease
HAL (Le Centre pour la Communication Scientifique Directe)·2016
Efficient derivation of microglia-like cells from human pluripotent stem cells
Nature Medicine·2016· 646 citedOpen Access
Gene therapy for metachromatic leukodystrophy
Journal of Neuroscience Research·2016· 92 citedOpen Access
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Frequent Co-authors

Nathalie Cartier(17), Ronald G. Crystal(5), Caroline Sevin(5), Ivan Bièche(4), Dolan Sondhi(4), Ronald J. A. Wanders(3), Fathia Djelti(3), Eloïse Hudry(3), Sandro Alves(3), Michel Vidaud(3), Debby Van Dam(3), Peter Paul De Deyn(3), Abdellatif Benraiss(3), Pierre Bougnères(3), Françoise Piguet(3), Françoise Fouquet(3), Monique Dubois‐Dalcq(3), Michel Zérah(3), F. Rocchiccioli(3), Fanny Mochel(2)