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Livia Poenaru

Research Profile

Chemicals & Drugs

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Adenoviridae

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Audrey Arfi; Rivka Zisling; Emmanuel Richard; Lionel Batista; Livia Poenaru; Anthony H Futerman; Catherine Caillaud
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
Audrey Arfi; Christophe Bourgoin; Luisa Basso; Carla Emiliani; Brunella Tancini; Vanna Chigorno; Yu-Teh Li; Antonio Orlacchio; Livia Poenaru; Sandro Sonnino; Catherine Caillaud
Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.
Constantina Heltianu; Gabriela Costache; Anca Gafencu; Miheala Diaconu; Mihaela Bodeanu; Carmen Cristea; K Azibi; Livia Poenaru; Maya Simionescu
Relationship of eNOS gene variants to diseases that have in common an endothelial cell dysfunction.

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All Publications

2006: Audrey Arfi; Rivka Zisling; Emmanuel Richard; Lionel Batista; Livia Poenaru; Anthony H Futerman; Catherine Caillaud
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
Journal of neurochemistry 2006;96(6):1572-9.
2005: Audrey Arfi; Christophe Bourgoin; Luisa Basso; Carla Emiliani; Brunella Tancini; Vanna Chigorno; Yu-Teh Li; Antonio Orlacchio; Livia Poenaru; Sandro Sonnino; Catherine Caillaud
Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.
Neurobiology of disease 2005;20(2):583-93.
2005: Constantina Heltianu; Gabriela Costache; Anca Gafencu; Miheala Diaconu; Mihaela Bodeanu; Carmen Cristea; K Azibi; Livia Poenaru; Maya Simionescu
Relationship of eNOS gene variants to diseases that have in common an endothelial cell dysfunction.
Journal of cellular and molecular medicine 2005;9(1):135-42.
2003: C Bourgoin; Carla Emiliani; EJ Kremer; A Gelot; Brunella Tancini; R A Gravel; Cristina Drugan; Antonio Orlacchio; Livia Poenaru; Catherine Caillaud
Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol.
Gene therapy 2003;10(21):1841-9.
2003: Claire Wary; Pascal Laforêt; Bruno Eymard; Michel Fardeau; Anne Leroy-Willig; guillaume bassez; Jean-Paul Leroy; Catherine Caillaud; Livia Poenaru; Pierre G Carlier
Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency.
Neuromuscular disorders : NMD 2003;13(7-8):545-53.
2002: Cristina Drugan; Lucia Procopciuc; Gh Jebeleanu; Paula Grigorescu-Sido; Jane Dussau; Livia Poenaru; Catherine Caillaud
Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
European journal of human genetics : EJHG 2002;10(9):511-5.
2002: E Martin-Touaux; Jean Philippe Puech; D Château; Carla Emiliani; EJ Kremer; N Raben; Brunella Tancini; Antonio Orlacchio; Axel Kahn; Livia Poenaru
Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.
Human molecular genetics 2002;11(14):1637-45.
2002: Constantina Heltianu; Gabriela Costache; K Azibi; Livia Poenaru; Maya Simionescu
Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease.
Clinical genetics 2002;61(6):423-9.
2002: Catherine Caillaud; Livia Poenaru
[Gaucher's and Fabry's diseases: biochemical and genetic aspects].
Journal de la Société de biologie 2002;196(2):135-40.
2001: Dominique P Germain; D Salard; F Fellmann; K Azibi; Catherine Caillaud; M C Bernard; Livia Poenaru
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
Human mutation 2001;17(4):353.
2000: Pascal Laforêt; Marc Nicolino; P B Eymard; Jean Philippe Puech; Catherine Caillaud; Livia Poenaru; Michel Fardeau
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Neurology 2000;55(8):1122-8.
2000: Catherine Caillaud; Livia Poenaru
Gene therapy in lysosomal diseases.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 2000;54(10):505-12.
2000: George A Diaz; Bruce D Gelb; N Risch; T G Nygaard; A Frisch; Ian Cohen; C S Miranda; Olga Amaral; I Maire; Livia Poenaru; Catherine Caillaud; M Weizberg; Pramod Mistry; Robert J Desnick
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
American journal of human genetics 2000;66(6):1821-32.
1999: Jacques-Emmanuel Guidotti; Alexandre Mignon; G Haase; Catherine Caillaud; N McDonell; Axel Kahn; Livia Poenaru
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
Human molecular genetics 1999;8(5):831-8.
1999: Dominique P Germain; Livia Poenaru
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Biochemical and biophysical research communications 1999;257(3):708-13.
1998: Marc Nicolino; Jean Philippe Puech; EJ Kremer; A J Reuser; C Mbebi; Martine Verdière-Sahuqué; Axel Kahn; Livia Poenaru
Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
Human molecular genetics 1998;7(11):1695-702.
1998: Dominique P Germain; Jean Philippe Puech; Catherine Caillaud; Axel Kahn; Livia Poenaru
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
American journal of human genetics 1998;63(2):415-27.
1998: Jacques-Emmanuel Guidotti; S Akli; Laetitia Castelnau-Ptakhine; Axel Kahn; Livia Poenaru
Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells.
Human molecular genetics 1998;7(5):831-8.
1997: Marc Nicolino; Jean Philippe Puech; F Letourneur; Michel Fardeau; Axel Kahn; Livia Poenaru
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
Biochemical and biophysical research communications 1997;235(1):138-41.
1997: R Draghia; F Letourneur; Cristina Drugan; J Manicom; C Blanchot; Axel Kahn; Livia Poenaru; Catherine Caillaud
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
Human mutation 1997;9(3):234-42.
1996: Dominique P Germain; M Biasotto; Mario Tosi; T Meo; Axel Kahn; Livia Poenaru
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.
Human genetics 1996;98(6):719-26.
1996: S Akli; Jacques-Emmanuel Guidotti; Emmanuelle Vigne; Michel Perricaudet; K Sandhoff; Axel Kahn; Livia Poenaru
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Gene therapy 1996;3(9):769-74.
1995: Marian A Kroos; M Van der Kraan; Otto P van Diggelen; Wim J Kleijer; Arnold J J Reuser; M J Van den Boogaard; Margreet G E M Ausems; H K Ploos van Amstel; Livia Poenaru; Marc Nicolino
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
Journal of medical genetics 1995;32(10):836-7.
1995: R Draghia; Catherine Caillaud; R Manicom; A Pavirani; Axel Kahn; Livia Poenaru
Gene delivery into the central nervous system by nasal instillation in rats.
Gene therapy 1995;2(6):418-23.
1994: Livia Poenaru; S Akli
Molecular epidemiology of Tay-Sachs disease in Europe.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(8-9):341-6.
1993: Catherine Caillaud; S Akli; Emmanuelle Vigne; Annette Koulakoff; Michel Perricaudet; Livia Poenaru; Axel Kahn; Y Berwald-Netter
Adenoviral vector as a gene delivery system into cultured rat neuronal and glial cells.
The European journal of neuroscience 1993;5(10):1287-91.
1993: S Akli; Catherine Caillaud; Emmanuelle Vigne; L D Stratford-Perricaudet; Livia Poenaru; Michel Perricaudet; Axel Kahn; Marc Peschanski
Transfer of a foreign gene into the brain using adenovirus vectors.
Nature genetics 1993;3(3):224-8.
1993: S Akli; Jamel Chelly; Axel Kahn; Livia Poenaru
A null allele frequent in non-Jewish Tay-Sachs patients.
Human genetics 1993;90(6):614-20.
1993: S Akli; J C Chomel; J M Lacorte; L Bachner; Axel Kahn; Livia Poenaru
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
Human molecular genetics 1993;2(1):61-7.
1992: Livia Poenaru; S Akli; F Rocchiccioli; P Eydoux; P Zamet
Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability.
Clinical genetics 1992;41(6):331-4.
1991: S Akli; Jamel Chelly; J M Lacorte; Livia Poenaru; Axel Kahn
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
Genomics 1991;11(1):124-34.
1990: S Akli; Jamel Chelly; C Mezard; S Gandy; Axel Kahn; Livia Poenaru
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
The Journal of biological chemistry 1990;265(13):7324-30.
1990: Livia Poenaru; C Mezard; S Akli; J F Oury; Yves Dumez; J Boue
Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluid.
Prenatal diagnosis 1990;10(4):231-5.
1989: S Gandy; L Castelnau; S Akli; A Kahn; Livia Poenaru
Msp1 RFLP in the human hexosaminidase beta peptide (Hex B) gene.
Nucleic acids research 1989;17(16):6761.
1988: Livia Poenaru; L Castelnau; F Tome; J Boue; P Maroteaux
A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations.
European journal of pediatrics 1988;147(3):321-7.
1988: Livia Poenaru; L Castelnau; A M Besançon; H Nicolesco; S Akli; D Theophil
First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'.
Journal of inherited metabolic disease 1988;11(2):123-30.
1985: A M Besançon; L Castelnau; H Nicolesco; Y Dumez; Livia Poenaru
Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy.
Clinical genetics 1985;27(5):479-82.
1985: Livia Poenaru; J P Belon; A M Besançon; J C Dreyfus
[Early prenatal diagnosis of lysosomal enzymopathies from biopsies of trophoblasts].
Annales de médecine interne 1985;136(5):409-11.
1985: Livia Poenaru; L Castelnau; A Choiset; Y Rouquet; F Thepot
Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture.
Human genetics 1985;69(4):378-9.
1984: Livia Poenaru; L Castelnau; Y Dumez; F Thepot
First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.
American journal of human genetics 1984;36(6):1379-85.
1984: Livia Poenaru; L Kaplan; J Dumez; J C Dreyfus
Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy.
Pediatric research 1984;18(10):1032-4.
1984: A M Besançon; J P Belon; L Castelnau; Y Dumez; Livia Poenaru
Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.
Prenatal diagnosis 1984;4(5):365-70.
1984: A M Besançon; S Gautron; Livia Poenaru; J C Dreyfus
Effects of antisera raised against native and denatured human alpha-glucosidase and beta-hexosaminidases on native enzyme activity.
Clinica chimica acta; international journal of clinical chemistry 1984;140(3):239-46.
1984: J C Dreyfus; J P Belon; S Gautron; G Lenoir; Livia Poenaru
High frequency of beta-hexosaminidase deficiency in lymphoblastoid cell lines.
Biochemical and biophysical research communications 1984;119(3):841-9.
1984: Y Rouquet; A Choiset; S Girard; F Thepot; Livia Poenaru
[Sampling, culturing and karyotyping of chorionic villi].
Journal de gynécologie, obstétrique et biologie de la reproduction 1984;13(4):403-7.
1983: Livia Poenaru; M C Vinet
Amniotic fluid protease activity and the prenatal detection of cystic fibrosis.
Prenatal diagnosis 1983;3(2):169-72.
1983: S Gautron; Livia Poenaru; J Boue; H Puissant; J J Lisman; J C Dreyfus
Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique.
Human genetics 1983;63(3):258-61.
1983: M. Clara Sá-Miranda; S Gautron; H Puissant; J C Dreyfus; Livia Poenaru
Reactivating factors of human alpha-mannosidase mutant.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1983;37(4):189-91.
1982: Livia Poenaru; L Castelnau; J Mossman; J Boué; J C Dreyfus
Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (beta-glucuronidase deficiency).
Prenatal diagnosis 1982;2(4):251-6.
1981: Livia Poenaru; M C Vinet; J C Dreyfus
Human amniotic fluid alpha-glucosidase.
Clinica chimica acta; international journal of clinical chemistry 1981;117(1):53-62.
1980: J C Dreyfus; Livia Poenaru; G Lenoir
Lysosomal hydrolases in established lymphoid cell lines.
Biomedicine / [publiée pour l'A.A.I.C.I.G.] 1980;33(3):78-80.
1980: Livia Poenaru; C Miranda; M. Clara Sá-Miranda
Residual mannosidase activity in human mannosidosis: characterization of the mutant enzyme.
American journal of human genetics 1980;32(3):354-63.
1980: J C Dreyfus; Livia Poenaru
White blood cells and the diagnosis of alpha-glucosidase deficiency.
Pediatric research 1980;14(4 Pt 1):342-4.