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1. Full Text AAV Immunogenicity: A Matter of Sensitivity
by Mingozzi, Federico
Molecular Therapy, ISSN 1525-0016, 10/2018, Volume 26, Issue 10, pp. 2335 - 2336
Despite the excitement, immunogenicity of AAV vectors remains an important hurdle associated with the technology,1 both in preclinical and clinical studies.... 
MEDICINE, RESEARCH & EXPERIMENTAL | REGULATOR | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | LIVER | GENETICS & HEREDITY | MICE | GENE-TRANSFER | AMELIORATES NONALCOHOLIC STEATOHEPATITIS | Hepatic artery | Animals | Immune response | Immunogenicity | Gene transfer | Liver | Serotypes | Genomes | Index Medicus
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2. Full Text Gene therapy for Pompe disease: the time is now
by Colella, Pasqualina and Mingozzi, Federico
Human Gene Therapy, ISSN 1043-0342, 07/2019
Pompe disease (PD) is caused by the deficiency of the lysosomal enzyme acid α-glucosidase (GAA), resulting in systemic pathological glycogen accumulation. PD... 
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3. Full Text Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
by Maguire, Albert M, MD|High, Katherine A, Prof|Auricchio, Alberto, Prof|Wright, J Fraser, PhD|Pierce, Eric A, MD|Testa, Francesco, MD|Mingozzi, Federico, PhD|Bennicelli, Jeannette L, PhD|Ying, Gui-shuang, PhD|Rossi, Settimio, MD|Fulton, Ann, Prof|Marshall, Kathleen A, COT|Banfi, Sandro, MD|Chung, Daniel C, DO|Morgan, Jessica IW, PhD|Hauck, Bernd, PhD|Zelenaia, Olga, PhD|Zhu, Xiaosong, MD|Raffini, Leslie, MD|Coppieters, Frauke, PhD|De Baere, Elfride, PhD|Shindler, Kenneth S, MD|Volpe, Nicholas J, Prof|Surace, Enrico M, DVM|Acerra, Carmela, BA|Lyubarsky, Arkady, PhD|Redmond, T Michael, PhD|Stone, Edwin, Prof|Sun, Junwei, MBA|McDonnell, Jennifer Wellman, MS|Leroy, Bart P, Prof|Simonelli, Francesca, MD|Bennett, Jean, Prof
Lancet, The, ISSN 0140-6736, 2009, Volume 374, Issue 9701, pp. 1597 - 1605
Summary Background Gene therapy has the potential to reverse disease or prevent further deterioration of vision in patients with incurable inherited retinal... 
Internal Medicine | VISUAL CYCLE | ISOMEROHYDROLASE | MEDICINE, GENERAL & INTERNAL | VISION | SAFETY | ROD | KINETICS | ISOMERASE | MUTATIONS | RETINITIS-PIGMENTOSA | BLINDNESS | Dependovirus - genetics | Nystagmus, Physiologic | Age Factors | Humans | Male | Optic Atrophy, Hereditary, Leber - genetics | Genetic Vectors - therapeutic use | Dark Adaptation | Dose-Response Relationship, Drug | Young Adult | Adult | Female | Blindness - congenital | Eye Proteins - genetics | Optic Atrophy, Hereditary, Leber - diagnosis | Safety | Child | cis-trans-Isomerases | Electroretinography | Treatment Outcome | Optic Atrophy, Hereditary, Leber - therapy | Mutation - genetics | Visual Acuity | Blindness - genetics | Disease Progression | Genetic Vectors - genetics | Carrier Proteins - genetics | Injections | Adolescent | Genetic Therapy - methods | Usage | Care and treatment | Genetic aspects | Leber's congenital amaurosis | Gene therapy | Health aspects | Studies | Eye movements | Patients | Eyes & eyesight | Light | Blindness | Index Medicus | Abridged Index Medicus
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4. Immune responses to AAV vectors, from bench to bedside
by Mingozzi, Federico and Büning, Hildegard and Basner-Tschakarjan, Etiena and Galy, Anne
2015, Frontiers Research Topics, ISBN 9782889195008
Immunologic diseases | Gene therapy
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5. Immune responses to AAV vectors, from bench to bedside
by Mingozzi, Federico and Büning, Hildegard and Basner-Tschakarjan, Etiena and Galy, Anne
2015, Frontiers Research Topics, ISBN 9782889195008
Immunologic diseases | Gene therapy
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6. Full Text Combination Therapy Is the New Gene Therapy?
by Ronzitti, Giuseppe and Mingozzi, Federico
Molecular Therapy, ISSN 1525-0016, 01/2018, Volume 26, Issue 1, pp. 12 - 14
The use of EAE as a model for MS allowed for the development of a variety of immunomodulatory strategies that have entered clinical practice and improved MS... 
MEDICINE, RESEARCH & EXPERIMENTAL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HEMOPHILIA-B | DISEASE | GENETICS & HEREDITY | REGULATORY T-CELLS | INHIBITOR | Drug Therapy, Combination | Genetic Therapy | Combined Modality Therapy | Animal models | Multiple sclerosis | Transplants & implants | Disease | Liver | Clinical trials | Lymphocytes T | Transplantation | Proteins | Genotype & phenotype | Coagulation factor IX | New combinations | Hemophilia | Immune system | Antigens | Autografts | Phenotypes | Immunoregulation | Immunomodulation | Rapamycin | Immunological tolerance | Patients | Experimental allergic encephalomyelitis | Quality of life | Coagulation factors | Immunosuppression | Gene therapy | Autoimmune diseases | Index Medicus
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7. Full Text Long-Term Safety and Efficacy of Factor IX Gene Therapy in Hemophilia B
by Nathwani, Amit C and Reiss, Ulreke M and Tuddenham, Edward G.D and Rosales, Cecilia and Chowdary, Pratima and McIntosh, Jenny and Della Peruta, Marco and Lheriteau, Elsa and Patel, Nishal and Raj, Deepak and Riddell, Anne and Pie, Jun and Rangarajan, Savita and Bevan, David and Recht, Michael and Shen, Yu-Min and Halka, Kathleen G and Basner-Tschakarjan, Etiena and Mingozzi, Federico and High, Katherine A and Allay, James and Kay, Mark A and Ng, Catherine Y.C and Zhou, Junfang and Cancio, Maria and Morton, Christopher L and Gray, John T and Srivastava, Deokumar and Nienhuis, Arthur W and Davidoff, Andrew M
The New England Journal of Medicine, ISSN 0028-4793, 11/2014, Volume 371, Issue 21, pp. 1994 - 2004
In this long-term follow-up study, men with hemophilia B had steady production of functional factor IX after gene transfer with an adeno-associated viral... 
EFFICIENT TRANSDUCTION | TRIAL | COAGULATION FACTOR-IX | MEDICINE, GENERAL & INTERNAL | ADENOASSOCIATED VIRAL VECTOR | VIRUS | LIVER | HUMAN FIX | EXPRESSION | Hemophilia B - therapy | Dependovirus - genetics | Gene Expression | Follow-Up Studies | Genetic Vectors - administration & dosage | Humans | Middle Aged | Hemophilia B - blood | Factor IX - genetics | Male | Alanine Transaminase - blood | Hemophilia B - genetics | Young Adult | Adult | Factor IX - metabolism | Infusions, Intravenous | Transgenes | Genetic Therapy - adverse effects | Physiological aspects | Hemophilia B | Research | Gene expression | Safety education | Analysis | Alanine | Intravenous administration | Toxicity | Genes | Body weight | Genomes | Patients | Clinical outcomes | Coagulation factors | Hemophilia | Alanine transaminase | Gene therapy | Prednisolone | Index Medicus | Abridged Index Medicus
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8. Full Text Oral Tolerance: Another Reason to Eat Your Veggies
by Hardet, Romain and Mingozzi, Federico
Molecular Therapy, ISSN 1525-0016, 02/2017, Volume 25, Issue 2, pp. 311 - 313
Oral tolerance appears to be mediated by various immune mechanisms (anergy, clonal deletion, or generation of regulatory T cells), depending on the levels of... 
MEDICINE, RESEARCH & EXPERIMENTAL | CELLS | INDUCTION | DELIVERY | VECTOR | INHIBITOR FORMATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HEMOPHILIA-B | FACTOR-IX | GENETICS & HEREDITY | MICE | GENE-TRANSFER | IMMUNE TOLERANCE | Anergy | CD8 antigen | Clinical trials | Lymphocytes T | Clotting | Mucous membrane | Proteins | Clonal deletion | Lymphocytes | Hemophilia | CD25 antigen | Immune system | Antigens | Risk groups | Gene transfer | Immunoregulation | Immunomodulation | Good Manufacturing Practice | Hypersensitivity | Immunological tolerance | Patients | Skeletal muscle | CD4 antigen | Coagulation factors | Immunosuppression | Tobacco | Cholera | Autoimmune diseases
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9. Full Text Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B
by Nathwani, Amit C and Tuddenham, Edward G.D and Rangarajan, Savita and Rosales, Cecilia and McIntosh, Jenny and Linch, David C and Chowdary, Pratima and Riddell, Anne and Pie, Arnulfo Jaquilmac and Harrington, Chris and O'Beirne, James and Smith, Keith and Pasi, John and Glader, Bertil and Rustagi, Pradip and Ng, Catherine Y.C and Kay, Mark A and Zhou, Junfang and Spence, Yunyu and Morton, Christopher L and Allay, James and Coleman, John and Sleep, Susan and Cunningham, John M and Srivastava, Deokumar and Basner-Tschakarjan, Etiena and Mingozzi, Federico and High, Katherine A and Gray, John T and Reiss, Ulrike M and Nienhuis, Arthur W and Davidoff, Andrew M
The New England Journal of Medicine, ISSN 0028-4793, 12/2011, Volume 365, Issue 25, pp. 2357 - 2365
Using techniques to target the liver, enhance gene expression, and avoid eliciting an immune response, the authors administered an adenovirus-associated virus... 
EFFICIENT TRANSDUCTION | IMMUNE-RESPONSE | MEDICINE, GENERAL & INTERNAL | ADENOASSOCIATED VIRAL VECTOR | THERAPY | CLINICAL-TRIAL | LIVER | HUMAN FIX | EXPRESSION | EXERCISE | HUMAN-FACTOR IX | Hemophilia B - therapy | Dependovirus - genetics | Genetic Vectors - immunology | Factor IX - therapeutic use | Humans | Middle Aged | Adult | Factor IX - genetics | Infusions, Intravenous | Transgenes - immunology | Genetic Therapy - adverse effects | Usage | Care and treatment | Genetic transformation | Adenoviruses | Patient outcomes | Hemophilia B | Genetic aspects | Research | Gene expression | Gene therapy | Phenotypes | Glucocorticoids | Good Manufacturing Practice | Liver | Prophylaxis | Immune clearance | Lymphocytes T | Genomes | Hemorrhage | Immunosuppressive agents | Coagulation factors | Hepatocytes | Hemophilia | Peripheral blood | Methods | Index Medicus | Abridged Index Medicus
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10. Full Text Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial
by Bennett, Jean, Prof|Wellman, Jennifer, MSc|Marshall, Kathleen A, COT|McCague, Sarah, BA|Ashtari, Manzar, PhD|DiStefano-Pappas, Julie, BA|Elci, Okan U, PhD|Chung, Daniel C, DO|Sun, Junwei, MSc|Wright, J Fraser, PhD|Cross, Dominique R, MPH|Aravand, Puya, BA|Cyckowski, Laura L, BA|Bennicelli, Jeannette L, PhD|Mingozzi, Federico, PhD|Auricchio, Alberto, MD|Pierce, Eric A, MD|Ruggiero, Jason, MD|Leroy, Bart P, Prof|Simonelli, Francesca, Prof|High, Katherine A, MD|Maguire, Albert M, Prof
Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10045, pp. 661 - 672
Summary Background Safety and efficacy have been shown in a phase 1 dose-escalation study involving a unilateral subretinal injection of a recombinant... 
Internal Medicine | RETINAL DEGENERATION | VISUAL CYCLE | MEDICINE, GENERAL & INTERNAL | LEBER CONGENITAL AMAUROSIS | CANINE MODEL | VISION | ADENOASSOCIATED VIRUS | ROD | IMPROVEMENT | Administration, Ophthalmic | Follow-Up Studies | Blindness - physiopathology | Humans | Middle Aged | Blindness - pathology | Male | Occipital Lobe - physiopathology | Retinal Cone Photoreceptor Cells - pathology | Patient Safety | Adult | Female | Blindness - therapy | Child | Linear Models | Dependovirus | Evidence-Based Medicine | Blindness - genetics | Retreatment | cis-trans-Isomerases - genetics | Vision, Ocular | Adolescent | Age of Onset | Mutation | Genetic Vectors | Injections, Intraocular | Retinal Rod Photoreceptor Cells - pathology | Genetic Therapy - adverse effects | Genetic Therapy - methods | Genetic vectors | Genes | Blindness | Genetic research | Genetic aspects | Ophthalmology | Gene therapy | Studies | Retina | Genomes | Children & youth | Index Medicus | Abridged Index Medicus
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11. Full Text Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
by Simonelli, Francesca and Maguire, Albert M and Testa, Francesco and Pierce, Eric A and Mingozzi, Federico and Bennicelli, Jeannette L and Rossi, Settimio and Marshall, Kathleen and Banfi, Sandro and Surace, Enrico M and Sun, Junwei and Redmond, T Michael and Zhu, Xiaosong and Shindler, Kenneth S and Ying, Gui-Shuang and Ziviello, Carmela and Acerra, Carmela and Wright, J Fraser and McDonnell, Jennifer Wellman and High, Katherine A and Bennett, Jean and Auricchio, Alberto
Molecular Therapy, ISSN 1525-0016, 03/2010, Volume 18, Issue 3, pp. 643 - 650
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital amaurosis (LCA), an autosomal... 
MEDICINE, RESEARCH & EXPERIMENTAL | MOLECULAR-GENETICS | CANINE MODEL | VISION | RPE65 MUTATIONS | NYSTAGMUS | HEMOPHILIA | VARIABILITY | CHILDHOOD BLINDNESS | PHASE-I TRIAL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENETICS & HEREDITY | Dependovirus - genetics | Retina - metabolism | Follow-Up Studies | Humans | Treatment Outcome | Leber Congenital Amaurosis - genetics | Disease Progression | Carrier Proteins - genetics | Time Factors | Vision, Ocular | Adult | Models, Genetic | Eye Proteins - genetics | Genetic Vectors | Transgenes | Leber Congenital Amaurosis - therapy | cis-trans-Isomerases | Genetic Therapy - methods | Index Medicus | Original
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12. Full Text Adeno-associated viral vectors at the frontier between tolerance and immunity
by Mingozzi, Federico and Büning, Hildegard
Frontiers in Immunology, ISSN 1664-3224, 2015, Volume 6, pp. 120 - 120
In recent years, the field of in vivo gene transfer with adeno-associated virus (AAV) vectors has seen an extraordinary expansion of applications and... 
Tolerance | AAV vector | Vaccine | Immune response | Gene therapy | AAV VECTORS | gene therapy | IMMUNOLOGY | RESPONSES | vaccine | THERAPY | immune response | HEMOPHILIA-B | IN-VIVO | LIVER | MICE | GENE-TRANSFER | tolerance | T-CELLS | Life Sciences | Vaccinology | Immunology | Gene Therapy
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13. Full Text Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy
by Cabrera-Pérez, Raquel and Vila-Julià, Ferran and Hirano, Michio and Mingozzi, Federico and Torres-Torronteras, Javier and Martí, Ramon
Human Gene Therapy, ISSN 1043-0342, 08/2019, Volume 30, Issue 8, pp. 985 - 998
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating disease caused by mutations in TYMP , which encodes thymidine phosphorylase... 
Research Articles | Animal models | Transcription | Liver | Homeostasis | Stem cell transplantation | Viruses | Genomes | Mitochondrial DNA | Thymidine | Phosphoglycerate kinase | Kinases | Hematopoietic stem cells | Thyroxine | Configurations | Deoxyribonucleic acid--DNA | Thymidine phosphorylase | Gene expression | Promoters | Phosphorylase | Hemopoiesis | DNA biosynthesis | Phosphorylases | Globulins | Stem cells | Mice | Mutation | Gene therapy
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14. Full Text Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy
by Haurigot, Virginia and Marcó, Sara and Ribera, Albert and Garcia, Miguel and Ruzo, Albert and Villacampa, Pilar and Ayuso, Eduard and Añor, Sònia and Andaluz, Anna and Pineda, Mercedes and García-Fructuoso, Gemma and Molas, Maria and Maggioni, Luca and Muñoz, Sergio and Motas, Sandra and Ruberte, Jess and Mingozzi, Federico and Pumarola, Martí and Bosch, Fatima
Journal of Clinical Investigation, ISSN 0021-9738, 08/2013, Volume 123, Issue 8, pp. 3254 - 3271
For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered... 
NONHUMAN-PRIMATES | MEDICINE, RESEARCH & EXPERIMENTAL | FACTOR-IX EXPRESSION | SANFILIPPO-SYNDROME | HEMOPHILIA-B | HEMATOPOIETIC STEM-CELL | CENTRAL-NERVOUS-SYSTEM | LYSOSOMAL STORAGE DISEASES | BLOOD-BRAIN-BARRIER | MPS-IIIA | NEURONAL CEROID-LIPOFUSCINOSIS | Care and treatment | Mucopolysaccharidosis | Genetic aspects | Transduction | Cerebrospinal fluid | Research | Gene therapy | Health aspects | Methods | Heparan sulfate | Brain | Disease | Neurodegeneration
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15. Full Text CD8 + T-cell responses to adeno-associated virus capsid in humans
by Murphy, Samuel L and High, Katherine A and Maus, Marcela V and Sommer, Jurg and Jiang, Haiyan and Rasko, John E J and Ragni, Margaret V and Mingozzi, Federico and Ertl, Hildegund C J and Hui, Daniel J and Pierce, Glenn F and Manno, Catherine S and Sabatino, Denise E
Nature Medicine, ISSN 1078-8956, 04/2007, Volume 13, Issue 4, pp. 419 - 422
Hepatic adeno-associated virus (AAV)-serotype 2 mediatedgene transfer results in transgene product expression that is sustained in experimental animals but not... 
MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | FACTOR-IX | LIVER | GENE-THERAPY | VECTORS | HEMOPHILIA-B DOGS | CELL BIOLOGY | Capsid - immunology | Gene Transfer Techniques | Lymphocyte Activation - immunology | Animals | Humans | Parvoviridae Infections - immunology | Peptides - immunology | Dependovirus - immunology | Mice | CD8-Positive T-Lymphocytes - immunology | Hepatocytes - immunology | Immunology | Cellular biology | Gene expression | Virology | Index Medicus
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