Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases

Source
Cell - ISSN 0092-8674-185:8 (2022) p. 1346-1355
Author(s)
    Andrew Chang, Xinyu Xiang, Jing Wang, Carolyn Lee, Tamta Arakhamia, Marija Simjanoska, Chi Wang, Yari Carlomagno, Guoan Zhang, Shikhar Dhingra, Manon Thierry, Jolien Perneel, Bavo Heeman, Lauren M. Forgrave, Michael DeTure, Mari L. DeMarco, Casey N. Cook, Rosa Rademakers, Dennis W. Dickson, Leonard Petrucelli, Michael H.B. Stowell, Ian R.A. Mackenzie, Anthony W.P. Fitzpatrick

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder

Source
Genetics in medicine - ISSN 1530-0366-24:7 (2022) p. 1583-1591
Author(s)
    Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frédéric Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte I De Bie, Sjoerd J B Holwerda, Mary Alice Abbot, Stylianos E Antonarakis, Bart Loeys