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Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.
Boivin M, Deng J, Pfister V, Grandgirard E, Oulad-Abdelghani M, Morlet B, Ruffenach F, Negroni L, Koebel P, Jacob H, Riet F, Dijkstra AA, McFadden K, Clayton WA, Hong D, Miyahara H, Iwasaki Y, Sone J, Wang Z, Charlet-Berguerand N. Boivin M, et al. Among authors: pfister v. Neuron. 2021 Jun 2;109(11):1825-1835.e5. doi: 10.1016/j.neuron.2021.03.038. Epub 2021 Apr 21. Neuron. 2021. PMID: 33887199 Free PMC article.
α6 integrin subunit regulates cerebellar development.
Marchetti G, De Arcangelis A, Pfister V, Georges-Labouesse E. Marchetti G, et al. Among authors: pfister v. Cell Adh Migr. 2013 May-Jun;7(3):325-32. doi: 10.4161/cam.25140. Epub 2013 May 24. Cell Adh Migr. 2013. PMID: 23722246 Free PMC article.
Hemidesmosome integrity protects the colon against colitis and colorectal cancer.
De Arcangelis A, Hamade H, Alpy F, Normand S, Bruyère E, Lefebvre O, Méchine-Neuville A, Siebert S, Pfister V, Lepage P, Laquerriere P, Dembele D, Delanoye-Crespin A, Rodius S, Robine S, Kedinger M, Van Seuningen I, Simon-Assmann P, Chamaillard M, Labouesse M, Georges-Labouesse E. De Arcangelis A, et al. Among authors: pfister v. Gut. 2017 Oct;66(10):1748-1760. doi: 10.1136/gutjnl-2015-310847. Epub 2016 Jul 1. Gut. 2017. PMID: 27371534 Free PMC article.