Clonal dynamics of haematopoiesis across the human lifespan.
Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
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,
Publication Date: 2019-11
Variant appearance in text: GAA: 1645G>C; Gly549Arg
The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.
Plos One
Khanna, Richie R; Powe, Allan C AC; Lun, Yi Y; Soska, Rebecca R; Feng, Jessie J; Dhulipala, Rohini R; Frascella, Michelle M; Garcia, Anadina A; Pellegrino, Lee J LJ; Xu, Su S; Brignol, Nastry N; Toth, Matthew J MJ; Do, Hung V HV; Lockhart, David J DJ; Wustman, Brandon A BA; Valenzano, Kenneth J KJ
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.
Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Porto, Caterina C; Ferrara, Maria C MC; Meli, Massimiliano M; Acampora, Emma E; Avolio, Valeria V; Rosa, Margherita M; Cobucci-Ponzano, Beatrice B; Colombo, Giorgio G; Moracci, Marco M; Andria, Generoso G; Parenti, Giancarlo G
Cardone, Monica M; Porto, Caterina C; Tarallo, Antonietta A; Vicinanza, Mariella M; Rossi, Barbara B; Polishchuk, Elena E; Donaudy, Francesca F; Andria, Generoso G; De Matteis, Maria Antonietta MA; Parenti, Giancarlo G