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CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Nature communications, 2019-03, Vol.10 (1), p.1136-14, Article 1136

2019

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Butyrate elicits a metabolic switch in human colon cancer cells by targeting the pyruvate dehydrogenase complex

International journal of cancer, 2011-06, Vol.128 (11), p.2591-2601

2011

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Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria

Haematologica (Roma), 2021-03, Vol.106 (3), p.913-917

2021

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Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1

Stem cell research, 2019-07, Vol.38, p.101467-101467, Article 101467

2019

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Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives

Life (Basel, Switzerland), 2024-01, Vol.14 (1), p.130

2024

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Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Molecular genetics and metabolism reports, 2024-06, Vol.39, p.101076, Article 101076

2024

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Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100722, Article 100722

2021

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Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology

Biochemical and biophysical research communications, 2019-10, Vol.517 (4), p.677-683

2019

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Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition

Human molecular genetics, 2017-04, Vol.26 (8), p.1565-1576

2017

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Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria)

Biochemical and biophysical research communications, 2019-12, Vol.520 (2), p.297-303

2019

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Late diagnosis of primary hyperoxaluria type III

Annals of clinical biochemistry, 2017-05, Vol.54 (3), p.406-411

2017

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An Orthotopic Model of Glioblastoma Is Resistant to Radiodynamic Therapy with 5-AminoLevulinic Acid

Cancers, 2022-08, Vol.14 (17), p.4244

2022

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Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells

Stem cell reports, 2020-09, Vol.15 (3), p.677-693

2020

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Pyruvate Dehydrogenase Kinase 4

Diabetes (New York, N.Y.), 2008-09, Vol.57 (9), p.2272-2279

2008

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Microcristaux de cholestérol dans le liquide synovial et polyarthrite rhumatoïde

Annales de biologie clinique (Paris), 2024-04, Vol.82 (1), p.112-113

2024

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CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

Nature communications, 2021-08, Vol.12 (1), p.1-12, Article 4922

2021

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Preventing hyperhomocysteinemia using vitamin B 6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Molecular genetics and metabolism reports, 2024-06, Vol.39, p.101076

2024

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Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria)

Biochemical and biophysical research communications, 2019-12, Vol.520 (2), p.297-303

2019

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CRISPR editing to mimic porphyria combined with light: A new preclinical approach for prostate cancer

Molecular Therapy: Oncology, 2024-03, Vol.32 (1), p.200772, Article 200772

2024

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Detoxification of H 2 S by Differentiated Colonic Epithelial Cells: Implication of the Sulfide Oxidizing Unit and of the Cell Respiratory Capacity

Antioxidants & redox signaling, 2012-07, Vol.17 (1), p.1-10

2012

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Pyruvate Dehydrogenase Kinase 4 : Regulation by Thiazolidinediones and Implication in Glyceroneogenesis in Adipose Tissue

Diabetes (New York, N.Y.), 2008, Vol.57 (9), p.2272-2279

2008

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Detoxification of H(2)S by differentiated colonic epithelial cells: implication of the sulfide oxidizing unit and of the cell respiratory capacity

Antioxidants & redox signaling, 2012-07, Vol.17 (1), p.1

2012

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Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Molecular genetics and metabolism reports, 2024, Vol.39, p.101076-101076

2024

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Effet des acides gras sur l’inflammation et le cancer

Oléagineux corps gras lipides, 2006-09, Vol.13 (5), p.331-336

2006

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CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Butyrate elicits a metabolic switch in human colon cancer cells by targeting the pyruvate dehydrogenase complex

Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria

Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1

Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology

Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition

Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria

Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria)

Late diagnosis of primary hyperoxaluria type III

An Orthotopic Model of Glioblastoma Is Resistant to Radiodynamic Therapy with 5-AminoLevulinic Acid

Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells

Pyruvate Dehydrogenase Kinase 4

Microcristaux de cholestérol dans le liquide synovial et polyarthrite rhumatoïde

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

Preventing hyperhomocysteinemia using vitamin B 6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria)

CRISPR editing to mimic porphyria combined with light: A new preclinical approach for prostate cancer

Detoxification of H 2 S by Differentiated Colonic Epithelial Cells: Implication of the Sulfide Oxidizing Unit and of the Cell Respiratory Capacity

Pyruvate Dehydrogenase Kinase 4 : Regulation by Thiazolidinediones and Implication in Glyceroneogenesis in Adipose Tissue

Detoxification of H(2)S by differentiated colonic epithelial cells: implication of the sulfide oxidizing unit and of the cell respiratory capacity

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Effet des acides gras sur l’inflammation et le cancer

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