Laurent Gouya Selected Research

Ferrochelatase (Heme Synthetase)

11/2019	GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
1/2019	Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
1/2015	Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.
4/2014	Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
10/2011	Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model.
1/2007	Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice.
1/2006	Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
2/2004	Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
1/2002	The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.

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Laurent Gouya Research Topics

Disease

16	Porphyrias (Porphyria) 01/2022 - 02/2004
15	Acute Intermittent Porphyria (Porphyria, Acute) 01/2022 - 02/2004
12	Erythropoietic Protoporphyria 01/2022 - 01/2002
9	Erythropoietic Porphyria (Congenital Erythropoietic Porphyria) 11/2021 - 02/2004
6	Iron Overload 11/2020 - 10/2013
5	Iron Deficiencies 08/2021 - 01/2007
5	Anemia 06/2021 - 06/2013
5	Hemochromatosis (Bronze Diabetes) 03/2016 - 02/2002
4	Thoracic Aortic Aneurysm 01/2021 - 11/2008
4	Hemolysis 11/2020 - 01/2017
4	Marfan Syndrome (Marfan's Syndrome) 04/2020 - 11/2008
3	Chronic Renal Insufficiency 01/2022 - 08/2015
3	Hemolytic Anemia 11/2020 - 01/2017
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 08/2015
3	Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency) 11/2019 - 02/2004
3	Sideroblastic Anemia 11/2019 - 01/2017
3	X-linked sideroblastic anemia 11/2019 - 09/2008
2	Pain (Aches) 01/2022 - 11/2020
2	Injection Site Reaction 01/2022 - 11/2020
2	Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency) 09/2021 - 11/2019
2	Ectopia Lentis 01/2021 - 05/2015
2	Chronic Kidney Failure (Chronic Renal Failure) 09/2020 - 04/2018
2	Liver Failure 01/2020 - 10/2011
2	Fibrosis (Cirrhosis) 01/2020 - 10/2011
2	Liver Diseases (Liver Disease) 01/2020 - 09/2008
2	Hepatic Porphyrias (Hepatic Porphyria) 11/2019 - 05/2017
2	Metabolic Diseases (Metabolic Disease) 01/2019 - 09/2015
2	Kidney Diseases (Kidney Disease) 04/2018 - 06/2017
2	Porphyria Cutanea Tarda 04/2018 - 02/2002
2	Hypochromic Anemia (Chlorosis) 06/2013 - 01/2007
2	Schizophrenia (Dementia Praecox) 04/2010 - 03/2004
1	Fatigue 01/2022
1	Nausea 01/2022
1	Hyperhomocysteinemia 01/2022
1	Hypertension (High Blood Pressure) 09/2021
1	Inflammation (Inflammations) 09/2021
1	Reticulocytosis 01/2021
1	Scoliosis 01/2021
1	Interstitial Lung Diseases (Interstitial Lung Disease) 12/2020
1	Body Weight (Weight, Body) 11/2020
1	Heart Arrest (Cardiac Arrest) 09/2020
1	Death (Near-Death Experience) 09/2020
1	Proteinuria 09/2020
1	Acute Erythroblastic Leukemia (Erythroleukemia) 04/2020

Drug/Important Bio-Agent (IBA)

28	Heme (Haem)IBA 01/2022 - 01/2002
15	EnzymesIBA 09/2021 - 02/2002
14	IronIBA 11/2021 - 02/2002
9	PorphyrinsIBA 11/2021 - 08/2015
9	Ferrochelatase (Heme Synthetase)IBA 11/2019 - 01/2002
8	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2007
6	Aminolevulinic Acid (Levulan)FDA Link 01/2022 - 08/2015
6	protoporphyrin IXIBA 04/2020 - 01/2007
6	HepcidinsIBA 12/2019 - 06/2013
6	Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA 11/2019 - 06/2014
5	Acute Hepatic PorphyriaIBA 01/2022 - 10/2005
5	PorphobilinogenIBA 01/2022 - 02/2014
5	givosiranIBA 01/2022 - 11/2020
5	Messenger RNA (mRNA)IBA 09/2021 - 01/2007
4	Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA 06/2021 - 08/2011
3	Hemin (Panhematin)FDA Link 01/2022 - 11/2020
3	Protoporphyrinogen Oxidase (Protox)IBA 09/2021 - 02/2004
3	Ferritins (Ferritin)IBA 08/2021 - 03/2016
3	Peptides (Polypeptides)IBA 01/2019 - 03/2016
3	Hemoglobins (Hemoglobin)IBA 05/2017 - 01/2017
3	Transferrin (beta 2 Transferrin)IBA 06/2013 - 02/2002
3	Dopamine Receptors (Dopamine Receptor)IBA 04/2010 - 11/2002
2	1,3,4,6- tetra- O- acetyl- 2- azido- 2- deoxyglucopyranose (TAAD)IBA 01/2021 - 12/2014
2	MicronutrientsIBA 01/2021 - 01/2018
2	Transaminases (Aminotransferases)IBA 11/2020 - 01/2020
2	CreatinineIBA 11/2020 - 09/2020
2	AcidsIBA 04/2020 - 02/2014
2	LigandsIBA 04/2020 - 01/2019
2	Coproporphyrinogen Oxidase (Coproporphyrinogen III Oxidases)IBA 11/2019 - 02/2004
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 11/2019 - 11/2019
2	Isoniazid (Ftivazide)FDA LinkGeneric 11/2019 - 01/2017
2	Uroporphyrinogen Decarboxylase (Uroporphyrinogen III Decarboxylase)IBA 04/2018 - 02/2002
2	Biological ProductsIBA 05/2017 - 08/2015
2	Fibrillin-1IBA 01/2017 - 09/2009
2	5-Aminolevulinate SynthetaseIBA 01/2017 - 08/2011
2	Hemochromatosis ProteinIBA 12/2013 - 02/2007
1	HomocysteineIBA 01/2022
1	Alanine Transaminase (SGPT)IBA 01/2022
1	Glucose (Dextrose)FDA LinkGeneric 09/2021
1	Rifampin (Rifampicin)FDA LinkGeneric 09/2021
1	antiarrhythmic peptide (AAP)IBA 08/2021
1	ElementsIBA 01/2021
1	Nonsense Codon (Nonsense Mutation)IBA 01/2021
1	BilirubinIBA 01/2021
1	Surface-Active Agents (Surfactants)IBA 12/2020
1	DeferiproneIBA 11/2020
1	Pharmaceutical PreparationsIBA 04/2020
1	PK 11195 (PK11195)IBA 04/2020
1	Amino Acids FDA Link 04/2020

Therapy/Procedure

4	Therapeutics 09/2021 - 04/2014
2	Liver Transplantation 01/2021 - 10/2011
1	Precision Medicine 01/2022
1	Intravenous Administration 11/2020
1	RNAi Therapeutics 11/2020
1	Transplantation 09/2020
1	Kidney Transplantation 09/2020