Anne-Laure Mathieu

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BACKGROUND A reduction of ADA2 activity due to autosomal recessive loss of function mutations in CECR1 results in a newly described vasculopathic phenotype reminiscent of polyarteritis nodosa, with manifestations ranging from fatal systemic vasculitis with multiple strokes in children to limited cutaneous disease in middle-aged individuals. Evidence(More)
Peptide aptamers are combinatorial recognition molecules that consist of a constant scaffold protein displaying a doubly constrained variable peptide loop. They bind specifically target proteins and interfere with their function. We have built a peptide aptamer library in a lentiviral expression system to isolate aptamers that inhibit cell proliferation in(More)
The Ras GTPase-activating protein RasGAP catalyzes the conversion of active GTP-bound Ras into inactive GDP-bound Ras. However, RasGAP also acts as a positive effector of Ras and exerts an anti-apoptotic activity that is independent of its GAP function and that involves its SH3 (Src homology) domain. We used a combinatorial peptide aptamer approach to(More)
Pattern-recognition receptors (PRRs) can detect various pathogen-associated molecular patterns such as carbohydrates, nucleic acids or bacterial peptides and play a major role in both innate and adaptive immunity. In physiological conditions, the engagement of PRRs triggers the production of proinflammatory cytokines and promotes pathogen destruction.(More)
BACKGROUND PRKDC encodes for DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a kinase that forms part of a complex (DNA-dependent protein kinase [DNA-PK]) crucial for DNA double-strand break repair and V(D)J recombination. In mice DNA-PK also interacts with the transcription factor autoimmune regulator (AIRE) to promote central T-cell tolerance.(More)
Natural killer (NK) cell maturation is a tightly controlled process that endows NK cells with functional competence and the capacity to recognize target cells. Here, we found that the transcription factor (TF) Zeb2 was the most highly induced TF during NK cell maturation. Zeb2 is known to control epithelial to mesenchymal transition, but its role in immune(More)
This chapter describes a retroviral insertion mutagenesis approach using replication-deficient myeloproliferative sarcoma virus retroviral vectors to identify apoptosis regulatory genes in the interleukin-3-dependent Baf-3 cell line. We describe the retroviral insertion mutagenesis protocol and the selection steps to obtain apoptosis resistant mutants. We(More)
One approach currently being developed in anticancer drug discovery is to search for small compounds capable of occupying and blocking the hydrophobic pocket of anti-apoptotic Bcl-2 family members necessary for interacting with pro-apoptotic proteins. Such an approach led to the discovery of several compounds, such as ABT-737 (which interacts with Bcl-2,(More)
O1 Efficacy and safety of Canakinumab in patients with periodic fever syndromes (colchicine-resistant fmf, hids/mkd and traps): results from a phase 3, pivotal, umbrella trial F. De Benedetti, J. Anton, M. Gattorno, H. Lachmann, I. Kone-Paut, S. Ozen, J. Frenkel, A. Simon, A. Zeft, E. Ben-Chetrit, H.M. Hoffman, Y. Joubert, K. Lheritier, A. Speziale, J.(More)
PRKDCmutations associatedwith immunodeficiency, granuloma and aire-dependent autoimmunity Alexandre Belot, Anne-Laure Mathieu, Estelle Veronese, Gillian Rice, Fanny Fouyssac, Yves Bertrand, Capucine Picard, Jolan Walter, Luigi Notarangelo, Catharina Schuetz, Heloise Reumaux, Mirjam Van Der Burg, Helen Kemp, Isabelle Rouvet, Christophe Malcus, Nicole Fabien,(More)
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