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3. Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network

Author

Stein, Penelope E, Edel, Yonatan, Mansour, Razan, Mustafa, Reem A, Sandberg, Sverre, Aarsand, Aasne, Anderson, K. E, Badminton, M, Balwani, M, Bonkovsky, H, Cappellini, M. D, Cassiman, D, Deybach, Jc, Gill, G, Gouya, L, Harper, P, Hift, R, Ivanova, A, Langendonk, J, Naik, H, Marcacci, M, Pischik, E, Rees, D, Sardh, E, Schmitt, C, Sonderup, M, Stolzel, U, To-Figueroas, J, Ventura, P, Wang, B, Weiler-Normann, C, Whatley, S, and Wilson, P

Subjects
consensus, acute porphyria, acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, Delphi, consensus, hereditary coproporphyria, acute intermittent porphyria, acute porphyria, variegate porphyria, Delphi
Published
2023

7. Genotype-phenotype correlations in Marfan syndrome patients with FBN1 mutations: a cohort study on 1575 patients

Author

Arnaud, P, primary, Milleron, O, additional, Hanna, N, additional, Ropers, J, additional, Ould Ouali, N, additional, Affoune, A, additional, Langeois, M, additional, Eliahou, L, additional, Arnoult, F, additional, Renard, P, additional, Michelon-Jouneaux, M, additional, Cotillon, M, additional, Gouya, L, additional, Boileau, C, additional, and Jondeau, G, additional

Published
2021
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10. Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Author

Arnaud, P., primary, Milleron, O., additional, Hanna, N., additional, Ropers, J., additional, Ould Ouali, N., additional, Affoune, A., additional, Langeois, M., additional, Eliahou, L., additional, Arnoult, F., additional, Renard, P., additional, Michelon-Jouneaux, M., additional, Cotillon, M., additional, Gouya, L., additional, Boileau, C., additional, and Jondeau, G., additional

Published
2021
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18. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropietic protoporphyria

Author

Rufenacht, U.B., Gouya, L., Schneider-Yin, X., Puy, H., Schafer, B.W., Aquaron, R., Nordmann, Y., Minder, E.I., and Deybach, J.C.

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Porphyria -- Genetic aspects, Liver diseases -- Genetic aspects, Erythropoietin -- Genetic aspects, Heme -- Physiological aspects, Enzymes -- Natural history, Biological sciences
Abstract

Erythropoietic protoporphyria (EPP) has been studied in 29 EPP patients, French and Swiss in origin. In 26 of them mutations have been found. Study has led to a significant increase in the mutation information on the ferrochelatase (FECH) gene. All of the patients, those with liver complications included, were seen to be heterozygous for the mutations seen in the FECH gene. There is new information about heredity and EPP, which is an hereditary disorder that comes from partial deficiency of the last enzyme in the heme biosynthesis pathway. EPP can be and is in most cases autosomal dominant with low clinical penetrance or autosomal recessive.

Published
1998

19. Liver Transplantation for Acute Intermittent Porphyria

Author

Lissing, M. (Mattias), Nowak, G. (Greg), Adam, R. (René), Karam, V. (Vincent), Boyd, A. (Alexander), Gouya, L. (Laurent), Meersseman, W. (Wouter), Melum, E. (Espen), Ołdakowska-Jedynak, U. (Urszula), Reiter, F.P. (Florian P.), Colmenero, J. (Jordi), Sanchez, R. (Rosario), Herden, U. (Uta), Langendonk, J.G. (Janneke), Ventura, P. (Paolo), Isoniemi, H. (Helena), Boillot, O. (Olivier), Braun, F. (Felix), Perrodin, S. (Stéphanie), Mowlem, E. (Elizabeth), Wahlin, S. (Staffan), Lissing, M. (Mattias), Nowak, G. (Greg), Adam, R. (René), Karam, V. (Vincent), Boyd, A. (Alexander), Gouya, L. (Laurent), Meersseman, W. (Wouter), Melum, E. (Espen), Ołdakowska-Jedynak, U. (Urszula), Reiter, F.P. (Florian P.), Colmenero, J. (Jordi), Sanchez, R. (Rosario), Herden, U. (Uta), Langendonk, J.G. (Janneke), Ventura, P. (Paolo), Isoniemi, H. (Helena), Boillot, O. (Olivier), Braun, F. (Felix), Perrodin, S. (Stéphanie), Mowlem, E. (Elizabeth), and Wahlin, S. (Staffan)

Abstract

Recurrent attacks of acute intermittent porphyria (AIP) result in poor quality of life and significant risks of morbidity and mortality. Liver transplantation (LT) offers a cure, but published data on outcomes after LT are limited. We assessed the pretransplant characteristics, complications, and outcomes for patients with AIP who received a transplant. Data were collected retrospectively from the European Liver Transplant Registry and from questionnaires sent to identified transplant and porphyria centers. We studied 38 patients who received transplants in 12 countries from 2002 to 2019. Median age at LT was 37 years (range, 18-58), and 34 (89%) of the patients were women. A total of 9 patients died during follow-up, and 2 patients were retransplanted. The 1-year and 5-year overall survival rates were 92% and 82%, which are comparable with other metabolic diseases transplanted during the same period. Advanced pretransplant neurological impairment was associated with increased mortality. The 5-year survival rate was 94% among 19 patients with moderate or no neuropathy at LT and 83% among 10 patients with severe neuropathy (P = 0.04). Pretransplant renal impairment was common. A total of 19 (51%) patients had a GFR < 60 mL/minute. Although few patients improved their renal function after LT, neurological impairments improved, and no worsening of neurological symptoms was recorded. No patient had AIP attacks after LT, except for a patient who received an auxiliary graft. LT is a curative treatment option for patients with recurrent attacks of AIP. Severe neuropathy and impaired renal function are common and increase the risk for poor outcomes. If other treatment options fail, an evaluation for LT should be performed early.

Published
2020
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20. EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

Author

Gouya, L, Ventura, P, Balwani, M, Bissell, DM, Rees, DC, Stölzel, U, Phillips, JA, Kauppinen, R, Langendonk, Janneke, Desnick, RJ, Deybach, JC, Bonkovsky, HL, Parker, CA, Naik, H, Badminton, M, Stein, PE, Minder, E, Windyga, J, Bruha, R, Cappellini, MD, Sardh, E, Harper, PG, Sandberg, S, Aarsand, AK, Andersen, JB, Alegre, F, Ivanova, A, Talbi, N, Chan, A, Querbes, W, Ko, JJ, Penz, C, Liu, S, Lin, T, Simon, A, Anderson, KM, Gouya, L, Ventura, P, Balwani, M, Bissell, DM, Rees, DC, Stölzel, U, Phillips, JA, Kauppinen, R, Langendonk, Janneke, Desnick, RJ, Deybach, JC, Bonkovsky, HL, Parker, CA, Naik, H, Badminton, M, Stein, PE, Minder, E, Windyga, J, Bruha, R, Cappellini, MD, Sardh, E, Harper, PG, Sandberg, S, Aarsand, AK, Andersen, JB, Alegre, F, Ivanova, A, Talbi, N, Chan, A, Querbes, W, Ko, JJ, Penz, C, Liu, S, Lin, T, Simon, A, and Anderson, KM

Published
2020

22. Overall Health, Daily Functioning, and Quality of Life in Acute Hepatic Porphyria Patients: ENVISION, a Phase 3 Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial

Author

Sardh, E., primary, Gouya, L., additional, Rees, D.C., additional, Stein, P., additional, Stölzel, U., additional, Aguilera Peiro, P., additional, Bissell, D.M., additional, Bonkovsky, H.L., additional, Keel, S., additional, Parker, C., additional, Phillips, J.D., additional, Silver, S., additional, Windyga, J., additional, D’Avola, D., additional, Ross, G., additional, Stewart, P., additional, Ritchie, B., additional, Oh, J., additional, Harper, P., additional, Wang, J.D., additional, Langendonk, J.G., additional, Ivanova, A., additional, Horie, Y., additional, Anderson, K.E., additional, Ventura, P., additional, Kauppinen, R., additional, Vassiliou, D., additional, Wang, B., additional, Hother-Nielsen, O., additional, Nakahara, T., additional, Lee, M.J., additional, Sasapu, A., additional, Scalera, S., additional, Lin, T., additional, Penz, C., additional, Simon, A., additional, Ko, J., additional, and Balwani, M., additional

Published
2020
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23. FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations

Author

Ader, F., primary, De Groote, P., additional, Reant, P., additional, Dupin Deguine, D., additional, Rambaud, C., additional, Khraiche, D., additional, Pruny, J.F., additional, Dramard, M.M., additional, Troadec, Y., additional, Gouya, L., additional, Jeunemaitre, X., additional, Van Maldergem, L., additional, Villard, E., additional, Charron, P., additional, and Richard, P., additional

Published
2020
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26. P6497Loeys-Dietz syndrome-5: phenotypic spectrum of TGFB3 mutations in an international cohort and first report of a homozygous patient

Author

Marsili, L, primary, Overwater, E, additional, Hanna, N, additional, Baujat, G, additional, Baars, M J H, additional, Brehin, A C, additional, Gerard, M, additional, Gouya, L, additional, Houweling, A C, additional, Vanlerberghe, C, additional, Voorhoeve, E, additional, Van Tintelen, J P, additional, Maugeri, A, additional, and Arnaud, P, additional

Published
2019
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27. P1247FLNC pathogenic variants in patients with various cardiomyopathies:prevalence and genotype-phenotype correlations

Author

Ader, F, primary, De Groote, P, additional, Reant, P, additional, Dupin-Deguine, D, additional, Rambaud, C, additional, Khraiche, D, additional, Pruny, J F, additional, Mathieu Dramard, M, additional, Troadec, Y, additional, Gouya, L, additional, Jeunemaitre, X, additional, Van Maldergem, L, additional, Villard, E, additional, Charron, P, additional, and Richard, P, additional

Published
2019
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28. FLNC mutations in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations

Author

Ader, F., primary, De Groote, P., additional, Reant, P., additional, Rooryck-Thambo, C., additional, Dupin Deguine, D., additional, Rambaud, C., additional, Khraiche, D., additional, Perret, C., additional, Pruny, J.F., additional, Mathieu Dramard, M., additional, Gerard, M., additional, Troadec, Y., additional, Gouya, L., additional, Jeunemaitre, X., additional, Van Maldergem, L., additional, Hagège, A., additional, Villard, E., additional, Charron, P., additional, and Richard, P., additional

Published
2019
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33. An Analysis of Healthcare Utilization and Costs Associated with Patients with Acute Hepatic Porphyrias (AHPS) with Recurrent Attacks in Explore: A Prospective, Multinational Natural History Study of Patients with AHP

Author

Gouya, L, primary, Bloomer, JR, additional, Balwani, M, additional, Bissell, DM, additional, Rees, DC, additional, Stölzel, U, additional, Phillips, JD, additional, Kauppinen, R, additional, Langendonk, JG, additional, Desnick, R, additional, Deybach, J, additional, Bonkovsky, HL, additional, Parker, C, additional, Naik, H, additional, Badminton, M, additional, Stein, P, additional, Minder, EI, additional, Windyga, J, additional, Martasek, P, additional, Cappellini, M, additional, Ventura, P, additional, Sardh, E, additional, Harper, P, additional, Sandberg, S, additional, Aarsand, A, additional, Alegre, F, additional, Ivanova, A, additional, Talbi, N, additional, Chan, A, additional, Querbes, W, additional, Penz, C, additional, Agarwal, S, additional, Simon, A, additional, and Anderson, KE, additional

Published
2018
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34. Trends in healthcare utilization in the United States and Europe associated with patient with acute hepatic porphyria with recurrent attacks in EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria

Author

Gouya, L., primary, Balwani, M., additional, Bissell, D.M., additional, Rees, D., additional, Stölzel, U., additional, Phillips, J., additional, Kauppinen, R.K., additional, Langendonk, J.L., additional, Desnick, R., additional, Deybach, J.C., additional, Bonkovsky, H., additional, Parket, C., additional, Naik, H., additional, Badminton, M., additional, Stein, P., additional, Minder, E., additional, Windyga, J., additional, Martasek, P., additional, Cappellini, M.D., additional, Ventura, P., additional, Sardh, E., additional, Harper, P., additional, Sandberg, S., additional, Aarsand, A., additional, Alegre, F., additional, Ivanova, A., additional, Talbi, N., additional, Chan, A., additional, Mccarthy, K., additional, Querbes, W., additional, Penz, C., additional, Agarwal, S., additional, Simon, A., additional, and Anderson, K., additional

Published
2018
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35. EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks

Author

Gouya, L., primary, Bloomer, J., additional, Balwani, M., additional, Bissell, D.M., additional, Rees, D., additional, Stölzel, U., additional, Phillips, J., additional, Kauppinen, R.K., additional, Langendonk, J.L., additional, Desnick, R., additional, Deybach, J.C., additional, Bonkovsky, H., additional, Parket, C., additional, Naik, H., additional, Badminton, M., additional, Stein, P., additional, Minder, E., additional, Windyga, J., additional, Martasek, P., additional, Cappellini, M.D., additional, Ventura, P., additional, Sardh, E., additional, Harper, P., additional, Sandberg, S., additional, Aarsand, A., additional, Alegre, F., additional, Ivanova, A., additional, Rock, S., additional, Chan, A., additional, Querbes, W., additional, Penz, C., additional, Simon, A., additional, and Anderson, K., additional

Published
2018
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36. Impact of acute hepatic porphyrias on quality of life and work loss: An analysis of EXPLORE natural history study

Author

Gouya, L., primary, Balwani, M., additional, Bissell, D.M., additional, Rees, D., additional, Stölzel, U., additional, Phillips, J., additional, Kauppinen, R.K., additional, Langendonk, J.L., additional, Desnick, R., additional, Deybach, J.C., additional, Bonkovsky, H., additional, Parket, C., additional, Naik, H., additional, Badminton, M., additional, Stein, P., additional, Minder, E., additional, Windyga, J., additional, Martasek, P., additional, Cappellini, M.D., additional, Ventura, P., additional, Sardh, E., additional, Harper, P., additional, Sandberg, S., additional, Aarsand, A., additional, Alegre, F., additional, Ivanova, A., additional, Talbi, N., additional, Chan, A., additional, Mccarthy, K., additional, Querbes, W., additional, Penz, C., additional, Agarwal, S., additional, Simon, A., additional, and Anderson, K., additional

Published
2018
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37. Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver

Author

Schmitt, C., primary, Lenglet, H., additional, Yu, A., additional, Delaby, C., additional, Benecke, A., additional, Lefebvre, T., additional, Letteron, P., additional, Paradis, V., additional, Wahlin, S., additional, Sandberg, S., additional, Harper, P., additional, Sardh, E., additional, Sandvik, A. K., additional, Hov, J. R., additional, Aarsand, A. K., additional, Chiche, L., additional, Bazille, C., additional, Scoazec, J.‐Y., additional, To-Figueras, J., additional, Carrascal, M., additional, Abian, J., additional, Mirmiran, A., additional, Karim, Z., additional, Deybach, J.‐C., additional, Puy, H., additional, Peoc'h, K., additional, Manceau, H., additional, and Gouya, L., additional

Published
2018
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39. Genetic Risk Factors of Chronic Mountain Sickness

Author

Richalet, J. P., Gazal, S., Espinoza, J. R., Austerlitz, F., Macarlupu, J. L., León-Velarde, Fabiola, Marchant, D., and Gouya, L.

Subjects
Biochemistry & Molecular Biology, Topics, purl.org/pe-repo/ocde/ford#1.06.03 [https], Cell Biology, Life Sciences & Biomedicine - Other
Abstract

Chronic mountain sickness (CMS) is a pathological condition resulting from the loss of adaptation to high altitude. The syndrome is characterized by an excessive number of red blood cells (Excessive Erythropoiesis) associated with a high concentration of hemoglobin, hypoxemia and sometimes pulmonary hypertension. In the Peruvian Andes, the estimated prevalence of this condition is higher than 10% in the adult population living above 2500 m. The pathophysiology is not yet clearly established. Alteration of the control of ventilation, especially during sleep could induce a severe hypoxemia that would trigger excessive secretion of erythropoietin (EPO), leading to increased red cell production. We collected clinical and physiological data and blood samples in a cohort of 143 CMS patients and 101 control subjects living at high altitude in Cerro de Pasco (4300m). Leukocytes DNA was extracted by salting out procedure, DNA was quantified and qualified with NanoDrop™ 2000. We performed a genome wide association study using an Illumina HumanOmni5 array (4,301,332 SNPs). CMS was associated with low arterial O2 saturation and high body mass index. We evidenced several genes that could be related to a susceptibility to develop CMS or pulmonary hypertension (ATM, NPAT, PPARGC1A, ATP9A, WWOX). These pathways revealed as submitted to recent positive selection. Moreover, the admixture level of European low lander ancestry in the genome of this population seemed to influence the occurrence of CMS and the polymorphism of selected genes. A replication study is planned to confirm our preliminary results.

Published
2017

41. Contribution Of Mutations In Genes Encoding Proteins Of The Surfactant Metabolism To Idiopathic Interstitial Pneumonia And Idiopathic Pulmonary Fibrosis In A Cohort Of 265 Families

Author

Nathan, N., Borie, R., Kannengiesser, C., Dastot Le Moal, F., Nunes, H., Valeyre, D., Reynaud-Gaubert, M., Sylvain Marchand-Adam, M Naccache, J., Prévôt, G., Christophe Delacourt, Marguet, C., Israel Biet, D., Thumerelle, C., Deschildre, A., Reix, P., Cottin, V., L Dalphin, M., Gondouin, A., Picard, C., Girault, V., Marie Legendre, Gouya, L., Crestani, B., Amselem, S., Clement, A., Epicentre [Paris] [Médecins Sans Frontières], Service des maladies respiratoires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Avicenne-Jean Verdier-René Muret, Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes (URMITE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR48, INSB-INSB-Centre National de la Recherche Scientifique (CNRS), Pathologies Respiratoires : Protéolyse et Aérosolthérapie, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Domaines Océaniques (LDO), Institut national des sciences de l'Univers (INSU - CNRS)-Université de Brest (UBO)-Observatoire des Sciences de l'Univers-Institut d'écologie et environnement-Centre National de la Recherche Scientifique (CNRS), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Pneumologie et allergologie pédiatriques [CHU Jeanne de Flandre, Lille], Hôpital Jeanne de Flandre [Lille], Centre de Référence des Maladies Pulmonaires Rares [Hôpital Louis Pradel - HCL], Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Department of Pneumology [Lyon], Hospices Civils de Lyon (HCL), Etablissement Français du Sang - Alpes-Méditerranée (EFS - Alpes-Méditerranée), Etablissement Français du Sang, Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Physiopathologie et Epidemiologie de l'Insuffisance Respiratoire, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pneumologie A, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre de compétence des maladies pulmonaires rares, Département Hospitalo-universtaire FIRE (Fibrosis, Inflammation and Remodeling), LabEx Inflamex, Service de pneumologie A, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Bichat, Laboratoire d'Hydrologie et de Géochimie de Strasbourg (LHyGeS), Ecole et Observatoire des Sciences de la Terre (EOST), Université de Strasbourg (UNISTRA)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS), Institut des sciences biologiques (INSB-CNRS)-Institut des sciences biologiques (INSB-CNRS)-Centre National de la Recherche Scientifique (CNRS), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Institut d'écologie et environnement-Observatoire des Sciences de l'Univers-Université de Brest (UBO)-Institut national des sciences de l'Univers (INSU - CNRS), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut national des sciences de l'Univers (INSU - CNRS)-Ecole et Observatoire des Sciences de la Terre (EOST), and Université de Strasbourg (UNISTRA)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases
Abstract

International Conference of the American-Thoracic-Society (ATS), San Francisco, CA, MAY 13-18, 2016; International audience; no abstract

Published
2016

43. Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites

Author

Smith CM, Jerkovic A, Puy H, Winship I, Deybach JC, Gouya L, van Dooren G, Goodman CD, Sturm A, Manceau H, McFadden GI, David P, Mercereau-Puijalon O, Burgio G, McMorran BJ, Foote SJ

Subjects
parasitic diseases
Abstract

Many red cell polymorphisms are a result of selective pressure by the malarial parasite. Here, we add another red cell disease to the panoply of erythrocytic changes that give rise to resistance to malaria. Erythrocytes from individuals with erythropoietic protoporphyria (EPP) have low levels of the final enzyme in the heme biosynthetic pathway, ferrochelatase. Cells from these patients are resistant to the growth of Plasmodium falciparum malarial parasites. This phenomenon is due to the absence of ferrochelatase and not an accumulation of substrate, as demonstrated by the normal growth of P falciparum parasites in the EPP phenocopy, X-linked dominant protoporphyria, which has elevated substrate, and normal ferrochelatase levels. This observation was replicated in a mouse strain with a hypomorphic mutation in the murine ferrochelatase gene. The parasite enzyme is not essential for parasite growth as Plasmodium berghei parasites carrying a complete deletion of the ferrochelatase gene grow normally in erythrocytes, which confirms previous studies. That ferrochelatase is essential to parasite growth was confirmed by showing that inhibition of ferrochelatase using the specific competitive inhibitor, N-methylprotoporphyrin, produced a potent growth inhibition effect against cultures of P falciparum. This raises the possibility of targeting human ferrochelatase in a host-directed antimalarial strategy.

Published
2014

45. PHS39 - An Analysis of Healthcare Utilization and Costs Associated with Patients with Acute Hepatic Porphyrias (AHPS) with Recurrent Attacks in Explore: A Prospective, Multinational Natural History Study of Patients with AHP

Author

Gouya, L, Bloomer, JR, Balwani, M, Bissell, DM, Rees, DC, Stölzel, U, Phillips, JD, Kauppinen, R, Langendonk, JG, Desnick, R, Deybach, J, Bonkovsky, HL, Parker, C, Naik, H, Badminton, M, Stein, P, Minder, EI, Windyga, J, Martasek, P, Cappellini, M, Ventura, P, Sardh, E, Harper, P, Sandberg, S, Aarsand, A, Alegre, F, Ivanova, A, Talbi, N, Chan, A, Querbes, W, Penz, C, Agarwal, S, Simon, A, and Anderson, KE

Published
2018
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46. SAT-041 - Trends in healthcare utilization in the United States and Europe associated with patient with acute hepatic porphyria with recurrent attacks in EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria

Author

Gouya, L., Balwani, M., Bissell, D.M., Rees, D., Stölzel, U., Phillips, J., Kauppinen, R.K., Langendonk, J.L., Desnick, R., Deybach, J.C., Bonkovsky, H., Parket, C., Naik, H., Badminton, M., Stein, P., Minder, E., Windyga, J., Martasek, P., Cappellini, M.D., Ventura, P., Sardh, E., Harper, P., Sandberg, S., Aarsand, A., Alegre, F., Ivanova, A., Talbi, N., Chan, A., Mccarthy, K., Querbes, W., Penz, C., Agarwal, S., Simon, A., and Anderson, K.

Published
2018
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47. SAT-040 - Impact of acute hepatic porphyrias on quality of life and work loss: An analysis of EXPLORE natural history study

Author

Gouya, L., Balwani, M., Bissell, D.M., Rees, D., Stölzel, U., Phillips, J., Kauppinen, R.K., Langendonk, J.L., Desnick, R., Deybach, J.C., Bonkovsky, H., Parket, C., Naik, H., Badminton, M., Stein, P., Minder, E., Windyga, J., Martasek, P., Cappellini, M.D., Ventura, P., Sardh, E., Harper, P., Sandberg, S., Aarsand, A., Alegre, F., Ivanova, A., Talbi, N., Chan, A., Mccarthy, K., Querbes, W., Penz, C., Agarwal, S., Simon, A., and Anderson, K.

Published
2018
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48. PS-143 - EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks

Author

Gouya, L., Bloomer, J., Balwani, M., Bissell, D.M., Rees, D., Stölzel, U., Phillips, J., Kauppinen, R.K., Langendonk, J.L., Desnick, R., Deybach, J.C., Bonkovsky, H., Parket, C., Naik, H., Badminton, M., Stein, P., Minder, E., Windyga, J., Martasek, P., Cappellini, M.D., Ventura, P., Sardh, E., Harper, P., Sandberg, S., Aarsand, A., Alegre, F., Ivanova, A., Rock, S., Chan, A., Querbes, W., Penz, C., Simon, A., and Anderson, K.

Published
2018
Full Text
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50. A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes

Author

Dubertret, C., Bardel, C., Ramoz, N., Martin, P-M., Deybach, J-C., Adès, J., Gorwood, P., Gouya, L., Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), and Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]
Published
2010

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