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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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Detrimental effects for colonocytes of an increased exposure to luminal hydrogen sulfide: The adaptive response

Free radical biology & medicine, 2016-04, Vol.93, p.155-164

2016

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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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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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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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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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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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Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria

Proceedings of the National Academy of Sciences - PNAS, 2013-11, Vol.110 (45), p.18238-18243

2013

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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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Lactose malabsorption and colonic fermentations alter host metabolism in rats

British journal of nutrition, 2013-08, Vol.110 (4), p.625-631

2013

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High-protein diet modifies colonic microbiota and luminal environment but not colonocyte metabolism in the rat model: the increased luminal bulk connection

American journal of physiology: Gastrointestinal and liver physiology, 2014-08, Vol.307 (4), p.G459-G470

2014

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Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria

Blood, 2020-11, Vol.136 (21), p.2457-2468

2020

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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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High-protein diet differently modifies intestinal goblet cell characteristics and mucosal cytokine expression in ileum and colon

The Journal of nutritional biochemistry, 2015-01, Vol.26 (1), p.91-98

2015

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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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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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Down-regulation of the phosphoenolpyruvate carboxykinase gene in human colon tumors and induction by omega-3 fatty acids

Biochimie, 2010-12, Vol.92 (12), p.1772-1777

2010

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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

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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Pyruvate dehydrogenase kinase 4: regulation by thiazolidinediones and implication in glyceroneogenesis in adipose tissue

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

2008

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CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Detrimental effects for colonocytes of an increased exposure to luminal hydrogen sulfide: The adaptive response

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

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

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

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

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

Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria

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

Lactose malabsorption and colonic fermentations alter host metabolism in rats

High-protein diet modifies colonic microbiota and luminal environment but not colonocyte metabolism in the rat model: the increased luminal bulk connection

Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria

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

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

High-protein diet differently modifies intestinal goblet cell characteristics and mucosal cytokine expression in ileum and colon

Late diagnosis of primary hyperoxaluria type III

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

Down-regulation of the phosphoenolpyruvate carboxykinase gene in human colon tumors and induction by omega-3 fatty acids

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)

Pyruvate dehydrogenase kinase 4: regulation by thiazolidinediones and implication in glyceroneogenesis in adipose tissue

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