C
Catherine Badens
Researcher at Aix-Marseille University
Publications - 139
Citations - 3116
Catherine Badens is an academic researcher from Aix-Marseille University. The author has contributed to research in topics: ATRX & Missense mutation. The author has an hindex of 29, co-authored 130 publications receiving 2486 citations. Previous affiliations of Catherine Badens include French Institute of Health and Medical Research.
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Journal ArticleDOI
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
Claire Navarro,Juan Cadiñanos,Annachiara De Sandre-Giovannoli,Rafaëlle Bernard,Sébastien Courrier,Irène Boccaccio,Amandine Boyer,Wim J. Kleijer,Anja Wagner,Fabienne Giuliano,Frits A. Beemer,José M. Freije,Pierre Cau,Raoul C.M. Hennekam,Carlos López-Otín,Catherine Badens,Nicolas Lévy +16 more
TL;DR: RD is either a primary or a secondary laminopathy, caused by dominant de novo LMNA mutations or, more frequently, recessive null ZMPSTE24 mutations, most of which lie in a mutation hotspot within exon 9.
Journal ArticleDOI
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors
Sterling C Eckard,Gillian I. Rice,Alexandre Fabre,Catherine Badens,Elizabeth E. Gray,Jane Hartley,Yanick J. Crow,Daniel B. Stetson +7 more
TL;DR: It is found that the SKIV2L RNA exosome potently limited the activation of RLRs, revealing a mechanism for the intracellular metabolism of immunostimulatory RNA, with implications for specific autoimmune disorders.
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SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Alexandre Fabre,Bernard Charroux,Christine Martinez-Vinson,Bertrand Roquelaure,Egritas Odul,Ersin Sayar,Hilary Smith,Virginie Colomb,Nicolas André,Jean-Pierre Hugot,Olivier Goulet,Caroline Lacoste,Jacques Sarles,Julien Royet,Nicolas Lévy,Catherine Badens +15 more
TL;DR: The results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of thehuman exosome complex and a Mendelian disease.
Journal ArticleDOI
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Raphael Rapetti-Mauss,Caroline Lacoste,Véronique Picard,Corinne Guitton,Elise Lombard,Marie Loosveld,Vanessa Nivaggioni,Nathalie Dasilva,David Salgado,Jean-Pierre Desvignes,Christophe Béroud,Patrick Viout,Monique Bernard,Olivier Soriani,Henri Vinti,Valérie Lacroze,Madeleine Fénéant-Thibault,Isabelle Thuret,Hélène Guizouarn,Catherine Badens +19 more
TL;DR: It is demonstrated that the mutated channel exhibits a higher activity and a higher Ca(2+) sensitivity compared with the wild-type (WT) channel, and remains sensitive to inhibition suggesting that treatment of this type of HX by a specific inhibitor of the Gardos channel could be considered.
Journal ArticleDOI
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Mathieu Milh,Nadia Boutry-Kryza,Julie Sutera-Sardo,Cyril Mignot,Stéphane Auvin,Caroline Lacoste,Nathalie Villeneuve,Agathe Roubertie,Bénédicte Héron,Maryline Carneiro,Anna Kaminska,Cecilia Altuzarra,Gaëlle Blanchard,Dorothée Ville,Marie Anne Barthez,Delphine Héron,Domitille Gras,Alexandra Afenjar,Nathalie Dorison,Dianne Doummar,Thierry Billette de Villemeur,Isabelle An,Aurélia Jacquette,Perrine Charles,Julie Perrier,Bertrand Isidor,Laurent Vercueil,Brigitte Chabrol,Catherine Badens,Catherine Badens,Gaetan Lesca,Laurent Villard,Laurent Villard +32 more
TL;DR: It is confirmed that KCNQ2 is frequently mutated de novo in neonatal onset epileptic encephalopathy and shown here that despite a relatively stereotyped beginning of the condition, the neurological and epileptic evolution is variable.