Search Results - "Akli, S"

The serine protease inhibitor elafin maintains normal growth control by opposing the mitogenic effects of neutrophil elastase by Caruso, J A, Akli, S, Pageon, L, Hunt, K K, Keyomarsi, K

“…The serine protease inhibitor, elafin, is a critical component of the epithelial barrier against neutrophil elastase (NE). Elafin is downregulated in the…”
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A novel interaction between HER2 neu and cyclin E in breast cancer by Mittendorf, E A, Liu, Y, Tucker, S L, McKenzie, T, Qiao, N, Akli, S, Biernacka, A, Liu, Y, Meijer, L, Keyomarsi, K, Hunt, K K

“…HER2/neu (HER2) and cyclin E are important prognostic indicators in breast cancer. As both are involved in cell cycle regulation we analyzed whether there was…”
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Gene therapy of murine motor neuron disease using adenoviral vectors for neurotrophic factors by Haase, G, Kennel, P, Pettmann, B, Vigne, E, Akli, S, Revah, F, Schmalbruch, H, Kahn, A

“…Motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy cause progressive paralysis, often leading to premature death…”
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Retrovirus-Mediated Enzymatic Correction of Tay-Sachs Defect in Transduced and Non-Transduced Cells by Guidotti, J.-E., Akli, S., Castelnau-takhine, L., Kahn, A., Poenaru, L.

“…Tay-Sachs disease is a severe neurodegenerative disorder due to mutations in the HEXA gene coding for the α-chain of the α-β heterodimeric lysosomal enzyme…”
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Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer by Akli, S, Guidotti, J E, Vigne, E, Perricaudet, M, Sandhoff, K, Kahn, A, Poenaru, L

“…Tay-Sachs disease (TSD) is a lysosomal storage disease due to hexosaminidase A deficiency caused by mutations in the gene for alpha-chain (Hex alpha). A human…”
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A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease by AKLI, S, CHELLY, J, MEZARD, C, GANDY, S, KAHN, A, POENARU, L

“…Tay-Sachs disease is an autosomal recessive genetic disease caused by a deficiency in beta-hexosaminidase A. We have characterized a new mutation in a Tunisian…”
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Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease by Cohen-Tannoudji, M, Marchand, P, Akli, S, Sheardown, S A, Puech, J P, Kress, C, Gressens, P, Nassogne, M C, Beccari, T, Muggleton-Harris, A L

“…Tay-Sachs disease is an autosomal recessive lysosomal storage disease caused by beta-hexosaminidase A deficiency and leads to death in early childhood. The…”
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P5-03-03: Identification of New Substrates for Breast Tumor Specific Low-Molecular-Weight Cyclin E Cyclin-Dependent-Kinase 2 by Akli, S, Duong, M, Keyomarsi, K. M. D

“…Abstract Background: Cyclin E overexpression occurs in 25% of breast cancer tumors and is linked to poor prognosis. In tumor cells full length cyclin E (FL-E)…”
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Molecular epidemiology of Tay-Sachs disease in Europe by Poenaru, L, Akli, S

“…The abnormalities in the gene coding for the beta-hexosaminidase alpha subunit were analysed from fibroblast's RNAs of 42 Tay-Sachs patients (seven with adult…”
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Illegitimate transcription : application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients by CHELLY, J, GILGENKRANTZ, H, HUGNOT, J. P, HAMARD, G, LAMBERT, M, RECAN, D, AKLI, S, COMETTO, M, KAHN, A, KAPLAN, J. C

“…We have previously demonstrated that there is a low level of transcription of tissue-specific genes in every cell type. In this study, we have taken advantage…”
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In vivo transfer of a marker gene to study motoneuronal development by Lisovoski, F, Cadusseau, J, Akli, S, Caillaud, C, Vigne, E, Poenaru, L, Stratford-Perricaudet, L, Pericaudet, M, Kahn, A, Peschanski, M

“…Adenovirus vectors containing a marker gene (lacZ from Escherichia coli) are potent for transferring the gene to neurones after intraparenchymal injections…”
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Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients by Akli, S, Chomel, J C, Lacorte, J M, Bachner, L, Kahn, A, Poenaru, L

“…The heterogeneity of mutations causing Tay-Sachs disease in non-Jewish populations requires efficient techniques allowing the simultaneous screening for both…”
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Targeting the cell cycle for prognosis and therapy of breast cancer by Keyomarsi, K, Akli, S

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Tumor-specific low molecular weight forms of cyclin E induce genomic instability and resistance to p21, p27, and antiestrogens in breast cancer by AKLI, Said, ZHENG, Ping-Ju, MULTANI, Asha S, WINGATE, Hannah F, PATHAK, Sen, NING ZHANG, TUCKER, Susan L, CHANG, Sandy, KEYOMARSI, Khandan

“…The deregulated expression of cyclin E as measured by the overexpression of its low molecular weight (LMW) isoforms is a powerful predictor of poor outcome in…”
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Cyclin E and Its Low Molecular Weight Forms in Human Cancer and as Targets for Cancer Therapy by Akli, Said, Keyomarsi, Khandan

“…The tight regulation of cyclin E both at the transcriptional level and by ubiquitin-mediated proteolysis indicates that it has a major role for the control of…”
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Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe by Akli, S, Boue, J, Sandhoff, K, Kleijer, W, Vamos, E, Young, E, Gatti, R, Di Natale, P, Motte, J, Vanier, M T

“…Tay-Sachs disease is a lipidosis due to the deficiency of the lysosomal hexosaminidase A. In order to understand the molecular mechanisms of this enzyme…”
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Low-molecular-weight cyclin E: the missing link between biology and clinical outcome by Akli, Said, Keyomarsi, Khandan

“…Cyclin E, a key mediator of transition during the G1/S cellular division phase, is deregulated in a wide variety of human cancers. Our group recently reported…”
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CDK2 is required for LMW-cyclin E mediated murine mammary tumorigenesis by Akli, S, Van Pelt, CS, Bui, TN, Keyomarsi, K

“…Abstract Abstract #2007 Cyclin E is a regulatory protein with multiple functions that activates CDK2, controls centrosome duplication, and regulates histone…”
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Transfer of a foreign gene into the brain using adenovirus vectors by Poenaru, Livia, Vigne, Emmanuelle, Peschanski, Marc R, Akli, Saïd, Caillaud, Catherine, Perricaudet, Michel, Stratford-Perricaudet, Leslie D, Kahn, Axel

“…The ability of a replication-deficient adenovirus vector to transfer a foreign gene into neural cells of adult rats in vivo has been analysed. A large number…”
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First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by ‘Immunoprecipitation—electrophoresis’ by Poenaru, L., Castelnau, L., Besançon, A‐M., Nicolesco, H., Akli, S., Theophil, D.

“…Summary Prenatal diagnosis of metachromatic leukodystrophy (MLD) due to arylsulphatase A (ASA) deficiency can be performed by amniocentesis with the…”
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