Now showing items 1-2 of 2

    • Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation 

      Polla, Daniel L.; Edmondson, Andrew C.; Duvet, Sandrine; March, Michael E.; Sousa, Ana Berta; Lehman, Anna; Niyazov, Dmitriy; van Dijk, Fleur; Demirdas, Serwet; van Slegtenhorst, Marjon A.; Kievit, Anneke J. A.; Schulz, Celine; Armstrong, Linlea; Bi, Xin; Rader, Daniel J.; Izumi, Kosuke; Zackai, Elaine H.; de Franco, Elisa; Jorge, Paula; Huffels, Sophie C.; Hommersom, Marina; Ellard, Sian; Lefeber, Dirk J.; Santani, Avni; Hand, Nicholas J.; van Bokhoven, Hans; He, Miao; de Brouwer, Arjan P. M. (Cell Press, 2021-07-01)
      EDEM3 encodes a protein that converts Man(8)GlcNAc(2) isomer B to Man(7-5)GlcNAc(2). It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded proteins that ...
    • PIGG variant pathogenicity assessment reveals characteristic features within 19 families. 

      Tremblay-Laganière, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L.; McLaughlin, Heather M.; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S.; Baranano, Kristin; Ismail, Fatima Y.; Patel, Millan S.; Lehman, Anna; Edmondson, Andrew C.; Nagy, Amanda; Walker, Melissa A.; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E.; Mancini, Grazia M. S.; Barakat, Tahsin Stefan; Steinfeld, Robert; Rüsch, Christina T.; Stettner, Georg M.; Wagner, Matias; Wortmann, Saskia B.; Kini, Usha; Brady, Angela F.; Stals, Karen L.; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D.; Antonarakis, Stylianos E.; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.; Murakami, Yoshiko (Nature, 2021-06-10)
      PURPOSE: Phosphatidylinositol Glycan Anchor Biosynthesis, class G (PIGG) is an ethanolamine phosphate transferase catalyzing the modification of glycosylphosphatidylinositol (GPI). GPI serves as an anchor on the cell ...