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Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. PDF available through Get Fulltext Research

Stéphanie Boisson-Dupuis Xiao-Fei Kong Satoshi Okada Sophie Cypowyj Anne Puel Laurent Abel Jean-Laurent Casanova

Published in Current Opinion in Immunology

The genetic dissection of various human infectious diseases has led to the definition of inborn errors of human STAT1 immunity of four types, including (i) autosomal recessive (AR) complete STAT1 deficiency, (ii) AR partial STAT1 deficiency, (iii) autosomal dominant (AD) STAT1 deficiency, and (iv) AD gain of STAT1 activity. The two types of AR STAT...

Semaphorin3A, Neuropilin-1, and PlexinA1 are required for lymphatic valve formation.

Bouvrée, Karine Brunet, Isabelle Del Toro, Raquel Gordon, Emma Prahst, Claudia Cristofaro, Brunella Mathivet, Thomas Xu, Yunling Soueid, Jihane Fortuna, Vitor ...

Published in Circulation research

The lymphatic vasculature plays a major role in fluid homeostasis, absorption of dietary lipids, and immune surveillance. Fluid transport depends on the presence of intraluminal valves within lymphatic collectors. Defective formation of lymphatic valves leads to lymphedema, a progressive and debilitating condition for which curative treatments are ...

Topological characterization of the DnaA-oriC complex using single-molecule nanomanipuation.

Zorman, Sylvain Seitz, H Sclavi, B Strick, T R

Published in Nucleic acids research

In most bacteria, the timing and synchrony of initiation of chromosomal replication are determined by the binding of the AAA(+) protein DnaA to a set of high- and low-affinity sites found within the origin of chromosomal replication (oriC). Despite the large amount of information on the role and regulation of DnaA, the actual structure of the DnaA-...

PPARγ contributes to PKM2 and HK2 expression in fatty liver. PDF available through Get Fulltext Research

Panasyuk, Ganna Espeillac, Catherine Chauvin, Céline Pradelli, Ludivine A Horie, Yasuo Suzuki, Akira Annicotte, Jean-Sebastien Fajas, Lluis Foretz, Marc Verdeguer, Francisco ...

Published in Nature communications

Rapidly proliferating cells promote glycolysis in aerobic conditions, to increase growth rate. Expression of specific glycolytic enzymes, namely pyruvate kinase M2 and hexokinase 2, concurs to this metabolic adaptation, as their kinetics and intracellular localization favour biosynthetic processes required for cell proliferation. Intracellular fact...

Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

Cossec, Jack-Christophe Lavaur, Jeremie Berman, Diego Rivals, Isabelle Hoischen, Alexander Stora, Samantha Ripoll, Clémentine Mircher, Clotilde Grattau, Yann OlivoMarin, Jean-Christophe ...

Enlarged early endosomes have been observed in neurons and fibroblasts in Down syndrome (DS). These endosome abnormalities have been implicated in the early development of Alzheimer's disease (AD) pathology in these subjects. Here, we show the presence of enlarged endosomes in blood mononuclear cells and lymphoblastoid cell lines (LCLs) from indivi...

Fuzzy Tandem Repeats Containing p53 Response Elements May Define Species-Specific p53 Target Genes

Simeonova, Iva Lejour, Vincent Bardot, Boris Bouarich-Bourimi, Rachida Morin, Aurélie Fang, Ming Charbonnier, Laure Toledo, Franck

Evolutionary forces that shape regulatory networks remain poorly understood. In mammals, the Rb pathway is a classic example of species-specific gene regulation, as a germline mutation in one Rb allele promotes retinoblastoma in humans, but not in mice. Here we show that p53 transactivates the Retinoblastoma-like 2 (Rbl2) gene to produce p130 in mu...

Mendelian susceptibility to mycobacterial disease in egyptian children.

Nermeen Galal Jeannette Boutros Aisha Marsafy Xiao-Fei Kong Jacqueline Feinberg Jean-Laurent Casanova Stéphanie Boisson-Dupuis Jacinta Bustamante

Published in Mediterranean Journal of Hematology and Infectious Diseases

Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare disorder with impaired immunity against mycobacterial pathogens. Reported MSMD etiologies highlight the crucial role of the Interferon gamma /Interleukin...

A Mouse Model of Schwartz-Jampel Syndrome Reveals Myelinating Schwann Cell Dysfunction with Persistent Axonal Depolariza... PDF available through Get Fulltext Research

Bangratz, Marie Sarrazin, Nadège Devaux, Jérôme Zambroni, Désirée Echaniz-Laguna, Andoni René, Frédérique Boërio, Delphine Davoine, Claire-Sophie Fontaine, Bertrand Feltri, Maria Laura ...

Published in The American Journal of Pathology

Congenital peripheral nerve hyperexcitability (PNH) is usually associated with impaired function of voltage-gated K+ channels (VGKCs) in neuromyotonia and demyelination in peripheral neuropathies. Schwartz-Jampel syndrome (SJS) is a form of PNH that is due to hypomorphic mutations of perlecan, the major proteoglycan of basement membranes. Schwann c...

DIGE enables the detection of a putative serum biomarker of fungal origin in a mouse model of invasive aspergillosis

Fekkar, A. Pionneau, C. Brossas, J.Y. Marinach-Patrice, C. Snounou, G. Brock, M. Ibrahim-Granet, O. Mazier, D.

Invasive aspergillosis (IA) is a major threat for immunocompromised patients. Diagnostic difficulties often delay specific treatment initiation, which increases mortality. Finding new biomarkers to improve and speed accurate diagnosis is thus vital. To investigate the ability of proteomic methods for discovering new biomarkers of IA, we used a DIGE...

Regulation of epithelial polarity by the E3 ubiquitin ligase Neuralized and the Bearded inhibitors in Drosophila.

Chanet, Soline Schweisguth, François

Published in Nature cell biology

Understanding how epithelial polarity is established and regulated during tissue morphogenesis is a major issue. Here, we identify a regulatory mechanism important for mesoderm invagination, germ-band extension and transepithelial migration in the Drosophila melanogaster embryo. This mechanism involves the inhibition of the conserved E3 ubiquitin l...

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