Genomes and Genes
- Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 DiagnosisAnne Davit-Spraul
Biochemistry Unit, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Universite Paris Sud 11, 78, rue du General Leclerc, Le Kremlin Bicetre, 94275 cedex, France
JIMD Rep 14:17-21. 2014..Tyr354*). This report increases awareness of a possible secondary mitochondrial respiratory chain defect in the liver tissue associated with other underlying causes such as PFIC2. ..
- Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 geneAnne Davit-Spraul
Biochemistry Laboratory, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Universite Paris Sud 11, Le Kremlin Bicetre, France Electronic address
Mol Genet Metab 113:225-9. 2014..Transcript analysis in liver tissue is the best way to determine whether the variations predicted to affect splicing are deleterious or not...
- Simple and fast quantification of nitisone (NTBC) using liquid chromatography-tandem mass spectrometry method in plasma of tyrosinemia type 1 patientsAnne Davit-Spraul
Biochemistry Unit, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
J Chromatogr Sci 50:446-9. 2012..The method was linear in the concentration range of 0.75-150 µM with r ≥ 0.998. Thus, this method is suitable for follow-up of patients treated with NTBC, because the current therapeutical concentrations range from 20 to 120 µM...
- Progressive familial intrahepatic cholestasisAnne Davit-Spraul
Biochemistry, Bicetre Hospital, University of Paris Sud XI, Assistance Publique Hopitaux de Paris, Paris, France
Orphanet J Rare Dis 4:1. 2009..Hepatocyte transplantation, gene therapy or specific targeted pharmacotherapy may represent alternative treatments in the future...
- Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studiesAnne Davit-Spraul
Biochemistry Unit, CHU Bicetre, Assistance Publique Hopitaux de Paris, France
Mol Genet Metab 104:137-43. 2011..Molecular analysis of GSD VI or IX genes allows to confirm diagnosis suspected on the basis of enzymatic analysis and to establish diagnosis and avoid liver biopsy when enzymatic studies are not informative in blood cells...
- ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural historyAnne Davit-Spraul
Biochemistry Unit, Hopital Bicetre, Assistance Publique, Hopitaux de Paris, Paris, France
Hepatology 51:1645-55. 2010..Combination of UDCA, BD, and liver transplantation allowed 87% of normal-GGT PFIC patients to be alive at a median age of 10.5 years (1-36), half of them without liver transplantation...
- The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspectsAnne Davit-Spraul
Biochemistry, University of Paris Sud 11, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
Semin Liver Dis 30:134-46. 2010..The latter should be good candidates for a targeted pharmacologic approach and/or to cell therapy in the future...
- Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrateEmmanuel Gonzales
Pediatric hepatology and pediatric liver transplantation unit and National Reference Centre for rare pediatric liver diseases, Bicêtre Universitary Hospital, Faculty of Medicine Paris Sud, University of Paris Sud 11, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, Paris, France
Hepatology 62:558-66. 2015..Bile analyses showed an increase in BAC with 4-PB. Patient conditions remained stable with a median follow-up of 40 months (range, 3-53), and treatment tolerance was good...
- Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2Emmanuel Gonzales
Pediatric Hepatology and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre Universitary Hospital, Faculty of Medicine Paris Sud, University of Paris Sud 11, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
J Hepatol 57:695-8. 2012..After an in vitro study in a hepatocellular polarized line, we tested 4-PB treatment in a child with a homozygous p.T1210P BSEP mutation...
- Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutationsAnne Davit-Spraul
Laboratoire de Biochimie, CHU de Bicetre, Assistance Publique Hopitaux de Paris, 78, rue du General Leclerc, 94275 Le Kremlin Bicetre cedex, France et Université Paris XI, IFR Bicêtre, France
Mol Genet Metab 94:443-7. 2008..R57P), c.839C>A (p.A280P) and c.932T>C (p.L311P)). Our strategy allows to diagnose 75% of HFI patients using restriction enzymatic analysis and to enlarge the diagnosis to 97% of HFI patients when associated with direct sequencing...
- Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapyEmmanuel Gonzales
Pediatric Hepatology Unit, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Paris, France
Gastroenterology 137:1310-1320.e1-3. 2009..The aim of the study was to evaluate the long-term effectiveness and safety of cholic acid (CA) therapy...
- Increase in liver antioxidant enzyme activities in non-alcoholic fatty liver diseaseGabriel Perlemuter
Service d Hepato Gastroenterologie, Hopital Antoine Beclere, AP HP, 157 rue de la Porte de Trivaux, 92141 Clamart Cedex, France
Liver Int 25:946-53. 2005....
- A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3Jean Louis Delaunay
Sorbonne Universités, UPMC Universite Paris 06, INSERM, UMR_S 938, Centre de Recherche Saint Antoine, Paris, France
Hepatology 63:1620-31. 2016..In patients, the most severe phenotypes appreciated by the duration of transplant-free survival were caused by ABCB4 variants that were markedly retained in the endoplasmic reticulum and expressed in a homozygous status...
- MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion diseaseEmmanuel Gonzales
Pediatric hepatology and pediatric liver transplantation unit and National Reference Centre for rare pediatric liver diseases, Bicetre University Hospital, University of Paris Sud, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
Hepatology . 2016....
- CFC1 gene involvement in biliary atresia with polysplenia syndromeAnne Davit-Spraul
Biochemistry Laboratory, France
J Pediatr Gastroenterol Nutr 46:111-2. 2008..These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome...
- NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutationsAnne Davit-Spraul
Biochemistry Laboratory, Bicetre Hospital, University of Paris Sud 11, Assistance Publique Hopitaux de Paris, Paris, France
Clin Res Hepatol Gastroenterol 36:569-73. 2012..No NR1H4 mutation was found in PFIC patients. In one woman with ICP/DIC, a NR1H4 heterozygous variant (c.-1G>T) was found. This suggests that a NR1H4 mutation is not or rarely involved in hepatocellular cholestasis of unknown cause...
- Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption SyndromeFrançois Xavier Mauvais
Pediatric Hepatology and Liver Transplantation Unit, Reference centre for pediatric liver diseases DHU Hepatinov, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Le Kremlin Bicetre, France
PLoS ONE 11:e0147750. 2016..We aimed to characterize the course of cholestasis and factors contributing to it in patients with deficiency due to pituitary stalk interruption syndrome (PSIS)...
- Liver diseases related to MDR3 (ABCB4) gene deficiencyEmmanuel Gonzales
Pediatric Hepatology and National Reference Centre for Biliary Atresia, Bicetre Hospital, University of Paris South 11, AP HP, Paris, France
Front Biosci (Landmark Ed) 14:4242-56. 2009..Some patients with MDR3 deficiency may benefit from ursodeoxycholic acid therapy and could be good candidates to a targeted pharmacological approach and/or to cell therapy in the future...
- Improvement of hepatocyte transplantation efficiency in the mdr2-/- mouse model by glyceryl trinitrateLyes Boudechiche
1 INSERM U 972, Paul Brousse Hospital, Villejuif, France 2 Paris Sud University, Orsay, France 3 Department of Minimally Invasive Surgery, Antoine Beclere Hospital, AP HP, Clamart, France 4 Department of Pediatric Surgery, Bicetre Hospital, AP HP, Kremlin Bicetre, France 5 Department of Biochemistry, Bicetre Hospital, AP HP, Kremlin Bicetre, France
Transplantation 99:36-40. 2015..Therefore, we investigated the effect of glyceryl trinitrate (GTN) on the efficacy of cell engraftment and on liver repopulation in the mdr2-knockout mouse, a model for progressive familial intrahepatic cholestasis type 3...
- MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion diseaseMuriel Girard
Department of Pediatric Gastroenterology and Hepatology, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Université Paris Descartes Sorbonne Cité, Paris, France INSERM, UMR 781, Université Paris Descartes Sorbonne Cité, Institut Imagine, Paris, France
Hepatology 60:301-10. 2014..Interruption of enterohepatic BA cycling after partial external biliary diversion or graft removal proved the most effective to ensure long-term remission...