Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase.
Nature Communications
Garvie, Colin W CW; Wu, Xiaoyun X; Papanastasiou, Malvina M; Lee, Sooncheol S; Fuller, James J; Schnitzler, Gavin R GR; Horner, Steven W SW; Baker, Andrew A; Zhang, Terry T; Mullahoo, James P JP; Westlake, Lindsay L; Hoyt, Stephanie H SH; Toetzl, Marcus M; Ranaghan, Matthew J MJ; de Waal, Luc L; McGaunn, Joseph J; Kaplan, Bethany B; Piccioni, Federica F; Yang, Xiaoping X; Lange, Martin M; Tersteegen, Adrian A; Raymond, Donald D; Lewis, Timothy A TA; Carr, Steven A SA; Cherniack, Andrew D AD; Lemke, Christopher T CT; Meyerson, Matthew M; Greulich, Heidi H
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
Frontiers In Immunology
De Groot, Anne S AS; Desai, Ankit K AK; Lelias, Sandra S; Miah, S M Shahjahan SMS; Terry, Frances E FE; Khan, Sundos S; Li, Cindy C; Yi, John S JS; Ardito, Matt M; Martin, William D WD; Kishnani, Priya S PS
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,