Publications: P Yung-Yao Lin

Kowala A, Boot J, Meng J, Mein CA, Pourquié O, Connelly JT, Morgan JE, Lin Y-Y ( 2025 ) . Engineered human myogenic cells in hydrogels generate innervated vascularized myofibers within dystrophic mouse muscle on long-term engraftment . Cell Reports Medicine vol. 6 , ( 3 ) Article 102019 , 102019 - 102019 .

Kowala A, Meng J, Pourquié O, Connelly J, Morgan JE, Lin Y-Y ( 2023 ) . Engineered human myogenic cells in hydrogels generate functional myofibers within dystrophic mouse muscle .

Harley P, Paredes-Redondo A, Grenci G, Viasnoff V, Lin Y, Lieberam I ( 2023 ) . 3D Compartmentalised Human Pluripotent Stem Cell–derived Neuromuscular Co-cultures . BIO-PROTOCOL vol. 13 , ( 5 )

Morera C, Kim J, Paredes-Redondo A, Nobles M, Rybin D, Moccia R, Kowala A, Meng J et al. ( 2022 ) . CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model . Neuromuscular Disorders vol. 32 , ( 11-12 ) 908 - 922 .

Morera C, Kim J, Paredes-Redondo A, Nobles M, Rybin D, Moccia R, Kowala A, Meng J et al. ( 2022 ) . CRISPR-mediated correction of skeletal muscle Ca²⁺handling in a novel DMD patient-derived pluripotent stem cell model .

Chesshyre M, Ridout D, Hashimoto Y, Ookubo Y, Torelli S, Maresh K, Ricotti V, Abbott L et al. ( 2022 ) . Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy . Journal of Cachexia, Sarcopenia and Muscle vol. 13 , ( 2 ) 1360 - 1372 .

Vinel C, Rosser G, Guglielmi L, Constantinou M, Pomella N, Zhang X, Boot JR, Jones TA et al. ( 2021 ) . Comparative epigenetic analysis of tumour initiating cells and syngeneic EPSC-derived neural stem cells in glioblastoma . Nature Communications vol. 12 , ( 1 ) Article 6130 ,

Paredes-Redondo A, Harley P, Maniati E, Ryan D, Louzada S, Meng J, Kowala A, Fu B et al. ( 2021 ) . Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections . Science Advances vol. 7 , ( 37 ) Article eabi8787 ,

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 ) Article e47967 ,

Paredes‐Redondo A, Lin Y ( 2019 ) . Human Induced Pluripotent Stem Cells: Challenges and Opportunities in Developing New Therapies for Muscular Dystrophies . Wiley

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 . Neuromuscular Disorders vol. 27 , ( 4 ) 387 - 395 .

Kim J, Lana B, Ryan D, Konstantinidis E, Louzada S, Fu B, Yang F, Stemple DL et al. ( 2017 ) . CRISPR-mediated genome editing in human induced pluripotent stem cells for modelling FKRP-deficient dystroglycanopathies . Neuromuscular Disorders . vol. 27 , S12 - S12 .

Lana B, Kim J, Ryan D, Konstantinidis E, Louzada S, Fu B, Yang F, Stemple DL et al. ( 2017 ) . Targeted gene correction of<i>FKRP</i>by CRISPR/Cas9 restores functional glycosylation of α-dystroglycan in cortical neurons derived from human induced pluripotent stem cells .

Paredes-Redondo A, Lin Y-Y ( 2017 ) . Developing novel human isogenic cellular models for Duchenne muscular dystrophy . NEUROMUSCULAR DISORDERS . vol. 27 , S6 - S6 .

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 , Article e14473 ,

Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin Y, Lee H, Stalnaker S et al. ( 2016 ) . Functional O‐Mannosylation of α‐Dystroglycan: Trisaccharide‐phospho‐ribitol Primed for Matriglycan Addition . The FASEB Journal . vol. 30 ,

Paredes-Redondo A, Lin Y-Y ( 2016 ) . Developing novel human isogenic cellular models for Duchenne muscular dystrophy . NEUROMUSCULAR DISORDERS . vol. 26 , S15 - S15 .

Lana B, Ryan D, Konstantinidis E, Muntoni F, Lin Y-Y ( 2016 ) . Isogenic human induced pluripotent stem cell based models for studying FKRP-deficient muscular dystrophy . NEUROMUSCULAR DISORDERS . vol. 26 , S13 - S13 .

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 . The American Journal of Human Genetics vol. 93 , ( 1 ) 29 - 41 .

Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S et al. ( 2013 ) . Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan . The American Journal of Human Genetics vol. 92 , ( 3 ) 354 - 365 .

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 β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome . Human Molecular Genetics vol. 22 , ( 9 ) 1746 - 1754 .

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 .

Stevens E, Carss K, Cirak S, Torelli S, Foley AR, Sewry C, Topaloglu H, Haliloglu G et al. ( 2012 ) . G.P.1 Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies . Neuromuscular Disorders . vol. 22 , 812 - 812 .

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

Roscioli T, Kamsteeg E-J, 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 . Human Molecular Genetics 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 . Developmental Biology vol. 325 , ( 2 ) 386 - 399 .