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A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E. Costa C, et al. Among authors: hinzpeter a. J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23. J Cyst Fibros. 2011. PMID: 21783433 Free article.
Biochemical methods to assess CFTR expression and membrane localization.
Farinha CM, Penque D, Roxo-Rosa M, Lukacs G, Dormer R, McPherson M, Pereira M, Bot AG, Jorna H, Willemsen R, Dejonge H, Heda GD, Marino CR, Fanen P, Hinzpeter A, Lipecka J, Fritsch J, Gentzsch M, Edelman A, Amaral MD. Farinha CM, et al. Among authors: hinzpeter a. J Cyst Fibros. 2004 Aug;3 Suppl 2:73-7. doi: 10.1016/j.jcf.2004.05.017. J Cyst Fibros. 2004. PMID: 15463932 Free article.
CSN5 binds to misfolded CFTR and promotes its degradation.
Tanguy G, Drévillon L, Arous N, Hasnain A, Hinzpeter A, Fritsch J, Goossens M, Fanen P. Tanguy G, et al. Among authors: hinzpeter a. Biochim Biophys Acta. 2008 Jun;1783(6):1189-99. doi: 10.1016/j.bbamcr.2008.01.010. Epub 2008 Jan 26. Biochim Biophys Acta. 2008. PMID: 18267124 Free article.
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
Hinzpeter A, Aissat A, Sondo E, Costa C, Arous N, Gameiro C, Martin N, Tarze A, Weiss L, de Becdelièvre A, Costes B, Goossens M, Galietta LJ, Girodon E, Fanen P. Hinzpeter A, et al. PLoS Genet. 2010 Oct 7;6(10):e1001153. doi: 10.1371/journal.pgen.1001153. PLoS Genet. 2010. PMID: 20949073 Free PMC article.
COMMD1-mediated ubiquitination regulates CFTR trafficking.
Drévillon L, Tanguy G, Hinzpeter A, Arous N, de Becdelièvre A, Aissat A, Tarze A, Goossens M, Fanen P. Drévillon L, et al. Among authors: hinzpeter a. PLoS One. 2011 Mar 31;6(3):e18334. doi: 10.1371/journal.pone.0018334. PLoS One. 2011. PMID: 21483833 Free PMC article.
COMMD1 modulates noxious inflammation in cystic fibrosis.
de Becdelièvre A, Rocca J, Aissat A, Drévillon L, Moutereau S, Le Gouvello S, Hinzpeter A, Tarze A, Fanen P. de Becdelièvre A, et al. Among authors: hinzpeter a. Int J Biochem Cell Biol. 2013 Nov;45(11):2402-9. doi: 10.1016/j.biocel.2013.07.012. Epub 2013 Jul 24. Int J Biochem Cell Biol. 2013. PMID: 23892095
71 results