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Magalie Lalanne
French Institute of Health and Medical Research
12Publications
7H-index
136Citations
Publications 12
Newest
#1Grégoire Cullot (French Institute of Health and Medical Research)H-Index: 1
#2Julian Boutin (French Institute of Health and Medical Research)H-Index: 1
Last.Aurélie BedelH-Index: 5
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CRISPR-Cas9 is a promising technology for genome editing. Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and correct congenital erythropoietic porphyria. We demonstrate that homology-directed repair is rare compared with NHEJ pathway leading to on-target indels and causing unwanted dysfunctional protein. Moreover, we describe unexpected chromosomal truncations resulting from only one Cas9 nuclease-induced DSB in cell lines and primary cells by a p53-de...
9 CitationsSource
#1J.P. Esteve (French Institute of Health and Medical Research)H-Index: 15
#2Jean-Marc Blouin (French Institute of Health and Medical Research)H-Index: 6
Last.Emmanuel Richard (French Institute of Health and Medical Research)H-Index: 12
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Abstract Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder caused by a deficiency of the peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which leads to overproduction of oxalate by the liver and results in urolithiasis, nephrocalcinosis and renal failure. The only curative treatment for PH1 is combined liver and kidney transplantation, which is limited by the lack of suitable organs, significant complications, and the life-long requirement for immunosuppressive ...
Source
#1J.P. Esteve (French Institute of Health and Medical Research)H-Index: 15
#2Jean-Marc Blouin (French Institute of Health and Medical Research)H-Index: 6
Last.Emmanuel Richard (French Institute of Health and Medical Research)H-Index: 12
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Abstract Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder of the liver metabolism due to functional deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). AGT deficiency results in overproduction of oxalate which complexes with calcium to form insoluble calcium-oxalate salts in urinary tracts, ultimately leading to end-stage renal disease. Currently, the only curative treatment for PH1 is combined liver-kidney transplantation, which is limited by...
1 CitationsSource
#1Jean-Marc Blouin (French Institute of Health and Medical Research)H-Index: 6
#2Yann Duchartre (French Institute of Health and Medical Research)H-Index: 3
Last.Emmanuel Richard (French Institute of Health and Medical Research)H-Index: 12
view all 9 authors...
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in massive porphyrin accumulation in blood cells, which is responsible for hemolytic anemia and skin photosensitivity. Among the missense mutations actually described up to now in CEP patients, the C73R and the P248Q mutations lead to a profound UROS deficiency and are usually associated with a severe clinical phenotype. We previously demonst...
18 CitationsSource
#1Aurélie Bedel (Université Bordeaux Segalen)H-Index: 5
#2Miguel Taillepierre (Université Bordeaux Segalen)H-Index: 3
Last.François Moreau-Gaudry (Université Bordeaux Segalen)H-Index: 17
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Congenital erythropoietic porphyria (CEP) is due to a deficiency in the enzymatic activity of uroporphyrinogen III synthase (UROS); such a deficiency leads to porphyrin accumulation and results in skin lesions and hemolytic anemia. CEP is a candidate for retrolentivirus-mediated gene therapy, but recent reports of insertional leukemogenesis underscore the need for safer methods. The discovery of induced pluripotent stem cells (iPSCs) has opened up new horizons in gene therapy because it might ov...
11 CitationsSource
#1Yann Duchartre (French Institute of Health and Medical Research)H-Index: 3
#2Nicolas Petit (French Institute of Health and Medical Research)H-Index: 3
Last.Emmanuel Richard (French Institute of Health and Medical Research)H-Index: 12
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Background & Aims Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis caused by partial ferrochelatase deficiency, resulting in protoporphyrin IX (PPIX) accumulation in erythrocytes, responsible for skin photosensitivity. In some EPP patients, the development of cholestatic liver injury due to PPIX accumulation can lead to hepatic failure. In adult EPP mice, bone marrow transplantation (BMT) leads to skin photosensitivity correction but fails to reverse liver damage...
4 CitationsSource
#1Elodie Robert-Richard (French Institute of Health and Medical Research)H-Index: 6
#2Magalie Lalanne (French Institute of Health and Medical Research)H-Index: 7
Last.Hubert de Verneuil (French Institute of Health and Medical Research)H-Index: 27
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Background Congenital erythropoietic porphyria (CEP) is a severe autosomal recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. We recently demonstrated the definitive cure of a murine model of CEP by lentiviral vector-mediated hematopoietic stem cell (HSC) gene therapy. In the perspective of a gene therapy clinical trial, human cellular models are required to evaluate the therapeutic potential of lentiviral...
4 CitationsSource
#1Elodie Robert-Richard (French Institute of Health and Medical Research)H-Index: 6
#2Magalie Lalanne (French Institute of Health and Medical Research)H-Index: 7
Last.Hubert de Verneuil (French Institute of Health and Medical Research)H-Index: 27
view all 9 authors...
Source
#1Elodie Robert-Richard (French Institute of Health and Medical Research)H-Index: 6
#2François Moreau-Gaudry (French Institute of Health and Medical Research)H-Index: 17
Last.Hubert de Verneuil (French Institute of Health and Medical Research)H-Index: 27
view all 9 authors...
Achieving long-term expression of a therapeutic gene in a given hematopoietic lineage remains an important goal of gene therapy. Congenital erythropoietic porphyria (CEP) is a severe autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. We used a recently obtained murine model to check the feasibility of gene therapy in this disease. Lentivirus-mediated transfer of the human UROS cDNA into hematopoi...
27 CitationsSource
#1Cécile Ged (French Institute of Health and Medical Research)H-Index: 18
#2M. Mendez (French Institute of Health and Medical Research)H-Index: 1
Last.H. de Verneuil (French Institute of Health and Medical Research)H-Index: 12
view all 11 authors...
Congenital erythropoietic porphyria (CEP) is a recessive autosomal disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. The severity of the disease, the lack of specific treatment except for allogeneic bone marrow transplantation, and the knowledge of the molecular lesions are strong arguments for gene therapy. An animal model of CEP has been designed to evaluate the feasibility of retroviral gene transfer in hematopo...
20 CitationsSource
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