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French Institute of Health, Medical Research, University of Paris Descartes, Fondation Imagine, Assistance Publique Hopitaux De Paris Aphp, French National Center for Scientific Research, University Grenoble Alpes, French Atomic Energy Commission and University of Burgundy | Date: 2015-02-18

The present invention relates to methods and pharmaceutical compositions for the treatment of diseases mediated by the NRP-1/OBR complex signaling pathway. In particular, the present invention relates to a method for treating a disease selected from the group consisting of cancers, obesity and obesity related diseases, anorexia, autoimmune diseases and infectious diseases in a subject in need thereof comprising administering the subject with a therapeutically effective amount of an antagonist of the NRP-1/OBR signaling pathway.


Petit F.,Service de Genetique Clinique | Petit F.,University of Lille Nord de France | Andrieux J.,Laboratoire Of Genetique Medicale | Baujat G.,Fondation Imagine | And 16 more authors.
Clinical Genetics | Year: 2014

Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd .


Reimann C.,University of Paris Descartes | Reimann C.,Albert Ludwigs University of Freiburg | Six E.,University of Paris Descartes | Dal-Cortivo L.,AP HP | And 11 more authors.
Stem Cells | Year: 2012

Slow T-cell reconstitution is a major clinical concern after transplantation of cord blood (CB)-derived hematopoietic stem cells. Adoptive transfer of in vitro-generated T-cell progenitors has emerged as a promising strategy for promoting de novo thymopoiesis and thus accelerating T-cell reconstitution. Here, we describe the development of a new culture system based on the immobilized Notch ligand Delta-like-4 (DL-4). Culture of human CD34 + CB cells in this new DL-4 system enabled the in vitro generation of large amounts of T-cell progenitor cells that (a) displayed the phenotypic and molecular signatures of early thymic progenitors and (b) had high T lymphopoietic potential. When transferred into NOD/SCID/γc-/- (NSG) mice, DL-4 primed T-cell progenitors migrated to the thymus and developed into functional, mature, polyclonal αβ T cells that subsequently left the thymus and accelerated T-cell reconstitution. T-cell reconstitution was even faster and more robust when ex vivo-manipulated and nonmanipulated CB samples were simultaneously injected into NSG mice (i.e., a situation reminiscent of the double CB transplant setting). This work provides further evidence of the ability of in vitro-generated human T-cell progenitors to accelerate T-cell reconstitution and also introduces a feeder-cell-free culture technique with the potential for rapid, safe transfer to a clinical setting. © AlphaMed Press.


Patent
French Institute of Health, Medical Research, French National Center for Scientific Research, University of Paris Descartes, Assistance Publique Hopitaux De Paris and Fondation Imagine | Date: 2016-05-23

Methods and compositions for the treatment of -thalassemia are provided. Methods and compositions restore or increase erythrocyte maturation in individuals afflicted with -TM by preventing proteolysis of GATA-1 protein. Screening methods for identifying agents which bind heat shock protein 70 (HSP-70) and inhibit HSP-70 -globin binding, but which allow GATA-1 protein-HSP-1 binding in a manner that prevents GATA-1 proteolysis.


Patent
French Institute of Health, Medical Research, French National Center for Scientific Research, University of Paris Descartes, Assistance Publique Hopitaux De Paris and Fondation Imagine | Date: 2014-11-19

Methods and compositions for the treatment of -thalassemia are provided. Methods and compositions restore or increase erythrocyte maturation in individuals afflicted with -TM by preventing proteolysis of GATA-1 protein. Screening methods for identifying agents which bind heat shock protein 70 (HSP-70) and inhibit HSP-70 -globin binding, but which allow GATA-1 protein-HSP-1 binding in a manner that prevents GATA-1 proteolysis.


The present invention relates to methods and pharmaceutical compositions for inhibiting lymphocyte proliferationin a subject in need thereof. In particular, the invention relates to a CTP synthase 1 (CTPS1) inhibitor for use in a method for inhibiting lymphocyte proliferationin a subject in need thereof. The invention also relates to a method for screening a plurality of test substances useful for inhibiting lymphocyte proliferationin a subject in need thereof comprising the steps consisting of i) testing each of the test substances for its ability to inhibit CTPS1 activity or expression and ii) identifying the test substance which inhibits CTPS1 activity or expression thereby to identify a test substance useful for inhibiting lymphocyte proliferationin a subject in need thereof.


Haudry C.,Assistance Publique HOpitaux de Paris | de Lonlay P.,Assistance Publique HOpitaux de Paris | de Lonlay P.,University of Paris Descartes | de Lonlay P.,French Institute of Health and Medical Research | And 19 more authors.
Molecular Genetics and Metabolism | Year: 2012

We report maternal uniparental disomy of chromosome 2 (matUPD2) in a 9-month-old girl presenting with hepatocerebral mitochondrial DNA depletion syndrome. This patient was homozygous for the c.352C > T (p.Arg118Cys) mutation in DGUOK gene. The proband's mother was heterozygous for the mutation was absent in DNA of the father. For proband, the absence of paternal contribution at the DGUOK locus prompted us to exclude intragenic DGUOK deletion of the paternal allele with Multiplex ligation-dependent probe amplification (MLPA) analysis. We also excluded non-paternity by studying various markers at different loci. Then we performed an analysis of copy number variations and absence of heterozygosity (AOH) on the proband DNA using high resolution oligonucleotides microarray. Several large regions of AOH with no copy number change were detected on chromosome 2 and one of these AOH regions encompassed DGUOK gene. These results were confirmed with haplotype analysis using polymorphic markers. Informative SNPs and microsatellites markers spanning the whole chromosome 2 showed a matUPD2 with heterodisomy and isodisomy regions, the absence of paternal allele and presence of two maternal alleles, with only one maternal allele on the region of DGUOK locus in 2p13.1. This is the first demonstration of matUPD2 with segmental isodisomy at 2p13.1 locus in hepatocerebral mitochondrial DNA depletion syndrome. The identification of UPD2 will impact genetic counseling for the proband's parents. Because the recurrence risk for UPD2 is very low, the risk for disease in further offspring for this couple is negligible. © 2012 Elsevier Inc.


Patent
French Institute of Health, Medical Research, Assistance Publique Hopitaux De Paris, University of Paris Descartes and Fondation Imagine | Date: 2013-04-10

The present invention relates to a method for diagnosing a skeletal ciliopathy.


Assouline Z.,University of Paris Descartes | Jambou M.,University of Paris Descartes | Rio M.,University of Paris Descartes | Bole-Feysot C.,Fondation Imagine | And 15 more authors.
Biochimica et Biophysica Acta - Molecular Basis of Disease | Year: 2012

Isolated complex I deficiency is a frequent cause of respiratory chain defects in childhood. In this study, we report our systematic approach with blue native PAGE (BN-PAGE) to study mitochondrial respiratory chain assembly in skin fibroblasts from patients with Leigh syndrome and CI deficiency. We describe five new NDUFS4 patients with a similar and constant abnormal BN-PAGE profile and present a meta-analysis of the literature. All NDUFS4 mutations that have been tested with BN-PAGE result in a constant and similar abnormal assembly profile with a complete loss of the fully assembled complex I usually due to a truncated protein and the loss of its canonical cAMP dependent protein kinase phosphorylation consensus site. We also report the association of abnormal brain MRI images with this characteristic BN-PAGE profile as the hallmarks of NDUFS4 mutations and the first founder NDUFS4 mutations in the North-African population. © 2012 Elsevier B.V.

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