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Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.
Published in:
Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02592
By:
- El-Daher, Marie-Thérèse;
- Lemale, Julie;
- Bruneau, Julie;
- Leveau, Claire;
- Guerin, Frédéric;
- Lambert, Nathalie;
- Diana, Jean-Sébastien;
- Neven, Bénédicte;
- Sepulveda, Fernando E.;
- Coulomb-L'Hermine, Aurore;
- Molina, Thierry;
- Picard, Capucine;
- Fischer, Alain;
- de Saint Basile, Geneviève
Publication type:
Article
Huntingtin proteolysis releases non-polyQ fragments that cause toxicity through dynamin 1 dysregulation.
Published in:
EMBO Journal, 2015, v. 34, n. 17, p. 2255, doi. 10.15252/embj.201490808
By:
- El‐Daher, Marie‐Thérèse;
- Hangen, Emilie;
- Bruyère, Julie;
- Poizat, Ghislaine;
- Al‐Ramahi, Ismael;
- Pardo, Raul;
- Bourg, Nicolas;
- Souquere, Sylvie;
- Mayet, Céline;
- Pierron, Gérard;
- Lévêque‐Fort, Sandrine;
- Botas, Juan;
- Humbert, Sandrine;
- Saudou, Frédéric
Publication type:
Article