A5071203673- Peptidase Inhibition and Analysis
- NF-κB Signaling Pathways
- Ubiquitin and proteasome pathways
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- Immune Cell Function and Interaction
- Acute Lymphoblastic Leukemia research
- Immunodeficiency and Autoimmune Disorders
- Microtubule and mitosis dynamics
- Hematopoietic Stem Cell Transplantation
- Pancreatic function and diabetes
- CRISPR and Genetic Engineering
- Single-cell and spatial transcriptomics
- Cellular Mechanics and Interactions
- Infant Nutrition and Health
- Cell Adhesion Molecules Research
- Genetic and rare skin diseases.
- Dermatological and Skeletal Disorders
- Genomics and Chromatin Dynamics
- Skin and Cellular Biology Research
- Neonatal Respiratory Health Research
Inserm
2013-2023
Université Paris Cité
2016-2023
Institut des Maladies Génétiques Imagine
2018-2023
European Society for Blood and Marrow Transplantation
2021
Délégation Paris 5
2016-2019
Sorbonne Paris Cité
2016-2019
Assistance Publique – Hôpitaux de Paris
2016
Hôpital Necker-Enfants Malades
2016
La Ligue Contre le Cancer
2014
Université Paris-Sud
2014
Abstract Background NF-κB is a master gene regulator involved in plethora of biological processes, including lymphocyte activation and proliferation. Reversible ubiquitinylation key adaptors required to convey the optimal NF-κB. However deubiquitinylases (DUBs), which catalyze removal these post-translational modifications participate reset system basal level following T-Cell receptor (TCR) engagement continue be elucidated. Findings Here, we performed an unbiased siRNA library screen...
Abstract A loss-of-function mutation in tetratricopeptide repeat domain 7A (TTC7A) is a recently identified cause of human intestinal and immune disorders. However, clues to related underlying molecular dysfunctions remain elusive. It now shown based on the study TTC7A-deficient wild-type cells that TTC7A an essential nuclear protein. binds chromatin, preferentially at actively transcribed regions. Its depletion results broad range epigenomic changes proximal distal transcriptional...
<h3>Background</h3> The actin cytoskeleton has a crucial role in the maintenance of immune homeostasis by controlling various cellular processes, including cell migration. Mutations <i>TTC7A</i> have been described as cause primary immunodeficiency associated to different degrees gut involvement and alterations dynamics. <h3>Objectives</h3> This study investigates impact TTC7A deficiency homeostasis. In particular, TTC7A/phosphatidylinositol 4 kinase type III α pathway control leukocyte...
The molecular machinery that regulates the balance between self-renewal and differentiation properties of hematopoietic stem cells (HSC) has yet to be characterized in detail. Here we found tetratricopeptide repeat domain 7 A (Ttc7a) protein, a putative scaffold protein expressed by HSC, acts as an intrinsic regulator proliferative response potential murine HSC vivo. Loss Ttc7a consistently enhanced competitive repopulating ability their capacity replenish system after serial cell...
Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or multiple intestinal atresia associated with immune deficiency of various severities, ranging from combined to mild lymphopenia. In this manuscript, we report clinical, biological and molecular features a patient born consanguineous parents, presenting recurrent lymphoproliferative syndrome hypergammaglobulinemia chronic pseudo obstruction (CIPO). Genetic screening...
Abstract The actin cytoskeleton has a crucial role in the maintenance of immune homeostasis by controlling various cell processes, including migration. Mutations TTC7A gene have been described as cause primary immunodeficiency associated to different degrees gut involvement and alterations dynamics. Although several cellular functions with TTC7A, protein is still poorly understood. Here we leverage microfabricated devices investigate impact deficiency leukocytes migration at single level. We...