Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Stephanie Lorain"'
Autor:
Kohji Hizume, Kiran Batta, Chandrima Das, Stephanie Lorain, Tapas K. Kundu, Parag P. Sadhale, Alain Verreault, B. R. Prashanth Kumar, Semanti Ganguly, Shrikanth S. Gadad, Kunio Takeyasu
Publikováno v:
Molecular and Cellular Biology. 26:8303-8315
Human transcriptional coactivator PC4 is a highly abundant multifunctional protein which plays diverse important roles in cellular processes, including transcription, replication, and repair. It is also a unique activator of p53 function. Here we rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac061fbfd5170a4f2eb86fcc2f673208
https://doi.org/10.1128/mcb.00887-06
https://doi.org/10.1128/mcb.00887-06
Autor:
Amédée Mollard, Cécile Peccate, Anne Forand, Julie Chassagne, Laura Julien, Pierre Meunier, Zoheir Guesmia, Thibaut Marais, Marc Bitoun, France Piétri-Rouxel, Sofia Benkhelifa-Ziyyat, Stéphanie Lorain
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Duchenne muscular dystrophy is a severe neuromuscular disease causing a progressive muscle wasting due to mutations in the DMD gene that lead to the absence of dystrophin protein. Adeno-associated virus (AAV)-based therapies aiming to restor
Externí odkaz:
https://doaj.org/article/5ed91629937e4299abe5d7e2bb11aa5c
Autor:
Anne Forand, Antoine Muchir, Nathalie Mougenot, Caroline Sevoz-Couche, Cécile Peccate, Mégane Lemaitre, Charlotte Izabelle, Matthew Wood, Stéphanie Lorain, France Piétri-Rouxel
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 695-708 (2020)
Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease caused by an absence of the dystrophin protein, which is essential for muscle fiber integrity. Among the developed therapeutic strategies for DMD, the exon-skipping approach cor
Externí odkaz:
https://doaj.org/article/3c70520b46014bc4a96f7817e4afd124
Autor:
Feriel Azibani, Astrid Brull, Ludovic Arandel, Maud Beuvin, Isabelle Nelson, Arnaud Jollet, Esma Ziat, Bernard Prudhon, Sofia Benkhelifa-Ziyyat, Marc Bitoun, Stéphanie Lorain, Gisèle Bonne, Anne T. Bertrand
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 10, Iss , Pp 376-386 (2018)
We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy. This gene therapy strategy leads to reduction of mutated transcript expression for the
Externí odkaz:
https://doaj.org/article/2bc39faefe1040038e4222aaa680707a
Autor:
Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, Laura Julien, Sofia Benkhelifa‐Ziyyat, Aymen Rabai, Kamel Mamchaoui, Arnaud Ferry, Jocelyn Laporte, Pascale Guicheney, Stéphane Vassilopoulos, Marc Bitoun
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 2, Pp 239-253 (2017)
Abstract Rapid advances in allele‐specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. We used this strategy for autosomal‐dominant centronuclear myopathy (CNM),
Externí odkaz:
https://doaj.org/article/a4426586b535417d812fa75336f2413c
Autor:
Caroline Godfrey, Lourdes R Desviat, Bård Smedsrød, France Piétri‐Rouxel, Michela A Denti, Petra Disterer, Stéphanie Lorain, Gisela Nogales‐Gadea, Valentina Sardone, Rayan Anwar, Samir EL Andaloussi, Taavi Lehto, Bernard Khoo, Camilla Brolin, Willeke MC van Roon‐Mom, Aurélie Goyenvalle, Annemieke Aartsma‐Rus, Virginia Arechavala‐Gomeza
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 5, Pp 545-557 (2017)
Abstract The use of splice‐switching antisense therapy is highly promising, with a wealth of pre‐clinical data and numerous clinical trials ongoing. Nevertheless, its potential to treat a variety of disorders has yet to be realized. The main obst
Externí odkaz:
https://doaj.org/article/dc24c7db81c9430cadef6dc5077b7915
Autor:
Christina Gedicke‐Hornung, Verena Behrens‐Gawlik, Silke Reischmann, Birgit Geertz, Doreen Stimpel, Florian Weinberger, Saskia Schlossarek, Guillaume Précigout, Ingke Braren, Thomas Eschenhagen, Giulia Mearini, Stéphanie Lorain, Thomas Voit, Patrick A. Dreyfus, Luis Garcia, Lucie Carrier
Publikováno v:
EMBO Molecular Medicine, Vol 5, Iss 7, Pp 1128-1145 (2013)
Abstract Exon skipping mediated by antisense oligoribonucleotides (AON) is a promising therapeutic approach for genetic disorders, but has not yet been evaluated for cardiac diseases. We investigated the feasibility and efficacy of viral‐mediated A
Externí odkaz:
https://doaj.org/article/2151f46ca23e4c23b5b19581f81c7297
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
Dynamin 2 (DNM2) is a large GTPase, ubiquitously expressed, involved in membrane trafficking and regulation of actin and microtubule cytoskeletons. DNM2 mutations cause autosomal dominant centronuclear myopathy which is a rare congenital myopathy cha
Externí odkaz:
https://doaj.org/article/1474f9f59a9143a8b9748a313c461681
Autor:
Giulia Mearini, Doreen Stimpel, Elisabeth Krämer, Birgit Geertz, Ingke Braren, Christina Gedicke-Hornung, Guillaume Précigout, Oliver J Müller, Hugo A Katus, Thomas Eschenhagen, Thomas Voit, Luis Garcia, Stéphanie Lorain, Lucie Carrier
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 2, Iss C (2013)
RNA trans-splicing has been explored as a therapeutic option for a variety of genetic diseases, but not for cardiac genetic disease. Hypertrophic cardiomyopathy (HCM) is an autosomal-dominant disease, characterized by left ventricular hypertrophy (LV
Externí odkaz:
https://doaj.org/article/71f14212fc7c4a9d880522573ae986ba
Publikováno v:
PLoS ONE, Vol 5, Iss 5, p e10894 (2010)
BACKGROUND: Trans-splicing strategies for mRNA repair involve engineered transcripts designed to anneal target mRNAs in order to interfere with their natural splicing, giving rise to mRNA chimeras where endogenous mutated exons have been replaced by
Externí odkaz:
https://doaj.org/article/92c50ee6d9e0479f990b6003d9a86267