Now showing items 1-2 of 2

    • Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. 

      Yap, Zheng Yie; Park, Yo Han; Wortmann, Saskia B.; Gunning, Adam C.; Ezer, Shlomit; Lee, Sukyeong; Duraine, Lita; Wilichowski, Ekkehard; Wilson, Kate; Mayr, Johannes A.; Wagner, Matias; Li, Hong; Kini, Usha; Black, Emily Davis; Monaghan, Kristin G.; Lupski, James R.; Ellard, Sian; Westphal, Dominik S.; Harel, Tamar; Yoon, Wan Hee (BioMed Central, 2021-04-12)
      BACKGROUND: ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, ...
    • 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 ...