N
Nicolas Goudin
Researcher at French Institute of Health and Medical Research
Publications - 32
Citations - 1424
Nicolas Goudin is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 13, co-authored 24 publications receiving 1056 citations. Previous affiliations of Nicolas Goudin include Necker-Enfants Malades Hospital & Paris Descartes University.
Papers
More filters
Journal ArticleDOI
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
Nadia Jeremiah,Bénédicte Neven,Matteo Gentili,Isabelle Callebaut,Sophia Maschalidi,Marie-Claude Stolzenberg,Nicolas Goudin,Marie-Louis Frémond,Patrick Nitschke,Thierry Jo Molina,Stéphane Blanche,Capucine Picard,Gillian I. Rice,Yanick J. Crow,Nicolas Manel,Alain Fischer,Brigitte Bader-Meunier,Frédéric Rieux-Laucat +17 more
TL;DR: It is found that the STING mutant spontaneously localizes in the Golgi of patient fibroblasts and is constitutively active in the absence of exogenous 2'3'-cGAMP in vitro.
Journal ArticleDOI
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux,Sophie Thomas,Karlien L.M. Coene,Erica E. Davis,Yasemin Alanay,Gönöl Ogur,Elif Uz,Daniela Buzas,Céline Gomes,Sophie Patrier,Christopher L. Bennett,Nadia Elkhartoufi,Marie Hélène Saint Frison,Luc Rigonnot,N. Joye,Solenn Pruvost,Gülen Eda Utine,Koray Boduroğlu,Patrick Nitschke,L. Fertitta,Christel Thauvin-Robinet,Arnold Munnich,Valérie Cormier-Daire,Raoul C.M. Hennekam,Estelle Colin,Nurten A. Akarsu,Christine Bole-Feysot,Nicolas Cagnard,Alain Schmitt,Nicolas Goudin,Stanislas Lyonnet,Férechté Encha-Razavi,Jean Pierre Siffroi,Mark Winey,Nicholas Katsanis,Marie Gonzales,Michel Vekemans,Philip L. Beales,Tania Attié-Bitach +38 more
TL;DR: In this article, the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies.
Journal ArticleDOI
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
Yun Ling,Yun Ling,Sophie Cypowyj,Caner Aytekin,Miguel Galicchio,Yildiz Camcioglu,Serdar Nepesov,Aydan Ikinciogullari,Figen Dogu,Aziz Belkadi,Aziz Belkadi,Romain Lévy,Romain Lévy,Mélanie Migaud,Mélanie Migaud,Bertrand Boisson,Alexandre Bolze,Yuval Itan,Nicolas Goudin,Julien Cottineau,Julien Cottineau,Capucine Picard,Laurent Abel,Laurent Abel,Laurent Abel,Jacinta Bustamante,Jean-Laurent Casanova,Anne Puel,Anne Puel,Anne Puel +29 more
TL;DR: Autosomal-recessive IL-17RA,IL-17RC, and ACT1 deficiencies and autosomal-dominant IL- 17F deficiency in humans underlie susceptibility to chronic mucocutaneous candidiasis.
Journal ArticleDOI
Severe influenza pneumonitis in children with inherited TLR3 deficiency
Hye Kyung Lim,Hye Kyung Lim,Hye Kyung Lim,Sarah X.L. Huang,Sarah X.L. Huang,Jie Chen,Jie Chen,Gaspard Kerner,Gaspard Kerner,Olivier Gilliaux,Paul Bastard,Paul Bastard,Kerry Dobbs,Nicholas Hernandez,Nicolas Goudin,Mary Hasek,Eduardo J. Garcia Reino,Fabien G. Lafaille,Lazaro Lorenzo,Lazaro Lorenzo,Priya Luthra,Tatiana Kochetkov,Benedetta Bigio,Soraya Boucherit,Soraya Boucherit,Flore Rozenberg,Catherine Vedrinne,Michael D. Keller,Yuval Itan,Yuval Itan,Adolfo García-Sastre,Marie Celard,Jordan S. Orange,Michael J. Ciancanelli,Isabelle Meyts,Isabelle Meyts,Qian Zhang,Laurent Abel,Laurent Abel,Laurent Abel,Luigi D. Notarangelo,Hans-Willem Snoeck,Jean-Laurent Casanova,Shen-Ying Zhang,Shen-Ying Zhang,Shen-Ying Zhang +45 more
TL;DR: The authors report three unrelated children with inheritedTLR3 deficiency, impaired TLR3-dependent, IFN-α/β– and/or -λ–mediated, pulmonary epithelial cell–intrinsic immunity to influenza A virus, and life-threatening influenza pneumonitis.
Journal ArticleDOI
Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex
Mathieu Kurowska,Mathieu Kurowska,Nicolas Goudin,Nadine Nehme,Nadine Nehme,Magali Court,Magali Court,Jérôme Garin,Jérôme Garin,Alain Fischer,Geneviève de Saint Basile,Gaël Ménasché,Gaël Ménasché +12 more
TL;DR: It is found that a kinesin-1-dependent process is required for terminal transport and secretion of polarized lytic granule to the immune synapse and synaptotagmin-like protein 3 (Slp3) is an effector of Rab27a in cytotoxic T lymphocytes and interacts with kinesIn-1 through the tetratricopeptide repeat of the kines in-1 light chain.