Publications:  Dr Yung-Yao Lin

Kim J, Lana B, Torelli S, Ryan D, Catapano F, Ala P, Luft C, Stevens E et al.(2019). A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan. EMBO Reports vol. 20, (11)

Brown SC, Winder SJ, Bevan N, Bevan L, Brown S, van Bokhoven H, Campbell K, Cirak S et al. (2017). 220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016. Elsevier BV

Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin Y-Y, Lee H, Stalnaker SH et al.(2016). The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. eLife vol. 5,

Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin Y-Y, Lee H, Stalnaker S et al. (2016). Functional O-Mannosylation of alpha-Dystroglycan: Trisaccharide-phospho-ribitol Primed for Matriglycan Addition. FASEB JOURNAL. Conference: Experimental Biology Meeting vol. 30,

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T et al.(2013). Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet vol. 93, (1) 29-41.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T et al.(2013). Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. American Journal of Human Genetics vol. 93, (1) 29-41.

Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg E-J, van den Elzen C et al.(2013). Missense mutations in-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause WalkerWarburg syndrome. HUMAN MOLECULAR GENETICS vol. 22, (9) 1746-1754.

Stevens E, Carss KJ, Cirak S, Foley R, Torelli S, Willer T, Tambunan DE, Yau S et al.(2013). Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of alpha-Dystroglycan. AMERICAN JOURNAL OF HUMAN GENETICS vol. 92, (3) 354-365.

Lin Y-Y(2012). Muscle diseases in the zebrafish. Neuromuscul Disord vol. 22, (8) 673-684.

Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, Van Reeuwijk J, Van Den Elzen C, Van Beusekom E, Riemersma M et al.(2012). Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics vol. 44, (5) 581-585.

Lin Y-Y, White RJ, Torelli S, Cirak S, Muntoni F, Stemple DL(2011). Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet vol. 20, (9) 1763-1775.

Lin Y-Y, Gubb D(2009). Molecular dissection of Drosophila Prickle isoforms distinguishes their essential and overlapping roles in planar cell polarity. Dev Biol vol. 325, (2) 386-399.