Search

Your search keyword '"Saker, Safaa"' showing total 18 results
Start Over Author "Saker, Safaa" Language english
18 results on '"Saker, Safaa"'

3. Pharmacometabolomics applied to low‐dose interleukin‐2 treatment in amyotrophic lateral sclerosis.

Author

Alarcan, Hugo, Bruno, Clément, Emond, Patrick, Raoul, Cédric, Vourc'h, Patrick, Corcia, Philippe, Camu, William, Veyrune, Jean‐Luc, Garlanda, Cecilia, Locati, Massimo, Juntas‐Morales, Raúl, Saker, Safaa, Suehs, Carey, Masseguin, Christophe, Kirby, Janine, Shaw, Pamela, Malaspina, Andrea, De Vos, John, Al‐Chalabi, Ammar, and Leigh, P. Nigel

Subjects
AMYOTROPHIC lateral sclerosis, PHARMACOGENOMICS, METABOLOMICS, INTERLEUKIN-2, REGULATORY T cells, MOTOR neuron diseases, T cells, INDIVIDUALIZED medicine
Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The immunosuppressive functions of regulatory T lymphocytes (Tregs) are impaired in ALS, and correlate to disease progression. The phase 2a IMODALS trial reported an increase in Treg number in ALS patients following the administration of low‐dose (ld) interleukin‐2 (IL‐2). We propose a pharmacometabolomics approach to decipher metabolic modifications occurring in patients treated with ld‐IL‐2 and its relationship with Treg response. Blood metabolomic profiles were determined on days D1, D64, and D85 from patients receiving 2 MIU of IL‐2 (n = 12) and patients receiving a placebo (n = 12). We discriminated the three time points for the treatment group (average error rate of 42%). Among the important metabolites, kynurenine increased between D1 and D64, followed by a reduction at D85. The percentage increase of Treg number from D1 to D64, as predicted by the metabolome at D1, was highly correlated with the observed value. This study provided a proof of concept for metabolic characterization of the effect of ld‐IL‐2 in ALS. These data could present advances toward a personalized medicine approach and present pharmacometabolomics as a key tool to complement genomic and transcriptional data for drug characterization, leading to systems pharmacology. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

4. Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis

Author

Teyssou, Elisa, Muratet, François, Amador, Maria-Del-Mar, Ferrien, Mélanie, Lautrette, Géraldine, Machat, Selma, Boillée, Séverine, Larmonier, Thierry, Saker, Safaa, Leguern, Eric, Cazeneuve, Cécile, Marie, Yannick, Guegan, Justine, Gyorgy, Beata, Cintas, Pascal, Meininger, Vincent, Le Forestier, Nadine, Salachas, François, Couratier, Philippe, Camu, William, Seilhean, Danielle, and Millecamps, Stéphanie

Published
2021
Full Text
View/download PDF

6. Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

Author

Teyssou, Elisa, Chartier, Laura, Amador, Maria-Del-Mar, Lam, Roselina, Lautrette, Géraldine, Nicol, Marie, Machat, Selma, Da Barroca, Sandra, Moigneu, Carine, Mairey, Mathilde, Larmonier, Thierry, Saker, Safaa, Dussert, Christelle, Forlani, Sylvie, Fontaine, Bertrand, Seilhean, Danielle, Bohl, Delphine, Boillée, Séverine, Meininger, Vincent, Couratier, Philippe, Salachas, François, Stevanin, Giovanni, and Millecamps, Stéphanie

Published
2017
Full Text
View/download PDF

10. The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.

Author

Teyssou, Elisa, Chartier, Laura, Roussel, Delphine, Perera, Nirma D., Nemazanyy, Ivan, Langui, Dominique, Albert, Mélanie, Larmonier, Thierry, Saker, Safaa, Salachas, François, Pradat, Pierre-François, Meininger, Vincent, Ravassard, Philippe, Côté, Francine, Lobsiger, Christian S., Boillée, Séverine, Turner, Bradley J., Seilhean, Danielle, and Millecamps, Stéphanie

Subjects
AMYOTROPHIC lateral sclerosis, HOMEOSTASIS, MOTOR neuron diseases, AUTOPHAGY, MOTOR neurons, MITOCHONDRIA, GENETIC mutation, SPINAL cord
Abstract

Mutations in profilin 1 (PFN1) have been identified in rare familial cases of Amyotrophic Lateral Sclerosis (ALS). PFN1 is involved in multiple pathways that could intervene in ALS pathology. However, the specific pathogenic role of PFN1 mutations in ALS is still not fully understood. We hypothesized that PFN1 could play a role in regulating autophagy pathways and that PFN1 mutations could disrupt this function. We used patient cells (lymphoblasts) or tissue (post-mortem) carrying PFN1 mutations (M114T and E117G), and designed experimental models expressing wild-type or mutant PFN1 (cell lines and novel PFN1 mice established by lentiviral transgenesis) to study the effects of PFN1 mutations on autophagic pathway markers. We observed no accumulation of PFN1 in the spinal cord of one E117G mutation carrier. Moreover, in patient lymphoblasts and transfected cell lines, the M114T mutant PFN1 protein was unstable and deregulated the RAB9-mediated alternative autophagy pathway involved in the clearance of damaged mitochondria. In vivo, motor neurons expressing M114T mutant PFN1 showed mitochondrial abnormalities. Our results demonstrate that the M114T PFN1 mutation is more deleterious than the E117G variant in patient cells and experimental models and suggest a role for the RAB9-dependent autophagic pathway in ALS. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

13. Myocapture: a large-scale sequencing project to identify novel genes for myopathies

Author

Lornage, Xavière, Schneider, Raphaël, Chéraud, Chrystel, Malfatti, Edoardo, Schartner, Vanessa, Chennen, Kirsley, Bonne, Gisèle, Nelson, Isabelle, Allamand, Valérie, Nectoux, Juliette, Leturcq, France, Bartoli, Marc, Krahn, Martin, Saker, Safaa, Filnemus, Clinicians And, Boland, Anne, Deleuze, Jean-François, Valérie, Biancalana, Romero, N.B, Böhm, Johann, Laporte, Jocelyn, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Réactions et Génie des Procédés (LRGP), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Hôpital Raymond Poincaré [AP-HP], Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Observatoire National Français des patients atteints de DMFSH (FSHD registry - France), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Généthon, Centre National de Genotypage, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Fondation Jean Dausset CEPH, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), and Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV]Life Sciences [q-bio]
Abstract

International audience

Published
2019

14. Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies

Author

Laporte, Jocelyn, Schneider, Raphael, Malfatti, Edoardo, Bonne, Gisèle, Leturcq, France, Nectoux, Juliette, Nelson, Isabelle, Richard, Isabelle, Krahn, Martin, Saker, Safaa, Bartoli, Marc, Biancalana, Valérie, Boland, Anne, Thompson, Julie, Romero, Norma, Böhm, Johann, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Réactions et Génie des Procédés (LRGP), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Généthon, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Banque d’ADN et de Cellules, CHU Strasbourg, Centre National de Recherche en Génomique Humaine [Évry] (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Université de Strasbourg (UNISTRA)

Subjects
Errance diagnostique, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Rare diseases
Abstract

International audience

Published
2018

17. The EuroBioBank Network : ten years of hands-on experience of collaborative, transnational biobanking for rare diseases

Author

Mora, Marina, Angelini, Corrado, Bignami, Fabrizia, Bodin, Anne-Mary, Crimi, Marco, Di Donato, Jeanne-Helene, Felice, Alex, Jaeger, Cecile, Karcagi, Veronika, LeCam, Yann, Lynn, Stephen, Meznaric, Marija, Moggio, Maurizio, Monaco, Lucia, Politano, Luisa, Posada De La Paz, Manuel, Saker, Safaa, Schneiderat, Peter, Ensini, Monica, Garavaglia, Barbara, Gurwitz, David, Johnson, Diana, Muntoni, Francesco, Puymirat, Jack, Reza, Mojgan, Voit, Thomas, Baldo, Chiara, Bricarelli, Franca Dagna, Goldwurm, Stefano, Merla, Giuseppe, Renieri, Alessandro, Zatloukal, Kurt, Filocamo, Mirella, Lochmuller, Hanns, and Pegoraro, Elena

Subjects
Biobanks -- Europe, Biological specimens -- Europe, Rare diseases
Abstract

The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was established in 2001 to facilitate access to RD biospecimens and associated data; it obtained funding from the European Commission in 2002 (5th framework programme) and started operation in 2003. The set-up phase, during the EC funding period 2003–2006, established the basis for running the network; the following consolidation phase has seen the growth of the network through the joining of new partners, better network cohesion, improved coordination of activities, and the development of a quality-control system. During this phase the network participated in the EC-funded TREAT-NMD programme and was involved in planning of the European Biobanking and Biomolecular Resources Research Infrastructure. Recently, EBB became a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards, and best practices in RD biobanking, is implementing integration with RD patient registries and ‘omics’ data, thus challenging the fragmentation of international cooperation on the field., EBB thanks EURORDIS for administrative support, Fondazione Telethon for administrative and financial support, the EC for providing funds (grants: FP5 EuroBioBank, contract N. 02769; FP6 TREAT-NMD, contract N. 036825; and FP7 RD-Connect, grant agreement N. 305444), and AFM for the vision of the network and for encouraging the network to get together. EBB gratefully acknowledges patients and collaborating clinicians/researchers for contributing samples and data to the network, and biobank staffs for running the EBB biobanks. The MRC support to the biobank in London and Newcastle is also gratefully acknowledged., peer-reviewed

Published
2015

18. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.

Author

Mora, Marina, Angelini, Corrado, Bignami, Fabrizia, Bodin, Anne-Mary, Crimi, Marco, Di Donato, Jeanne- Hélène, Felice, Alex, Jaeger, Cécile, Karcagi, Veronika, LeCam, Yann, Lynn, Stephen, Meznaric, Marija, Moggio, Maurizio, Monaco, Lucia, Politano, Luisa, de la Paz, Manuel Posada, Saker, Safaa, Schneiderat, Peter, Ensini, Monica, and Garavaglia, Barbara

Subjects
BIOBANKS, NUCLEOTIDE sequencing, EXONS (Genetics), RARE diseases, BIOINFORMATICS
Abstract

The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was established in 2001 to facilitate access to RD biospecimens and associated data; it obtained funding from the European Commission in 2002 (5th framework programme) and started operation in 2003. The set-up phase, during the EC funding period 2003-2006, established the basis for running the network; the following consolidation phase has seen the growth of the network through the joining of new partners, better network cohesion, improved coordination of activities, and the development of a quality-control system. During this phase the network participated in the EC-funded TREAT-NMD programme and was involved in planning of the European Biobanking and Biomolecular Resources Research Infrastructure. Recently, EBB became a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards, and best practices in RD biobanking, is implementing integration with RD patient registries and 'omics' data, thus challenging the fragmentation of international cooperation on the field. [ABSTRACT FROM AUTHOR]

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results