Publications: Dr Yung-Yao Lin

Harley P, Paredes-Redondo A, Grenci G, Viasnoff V, Lin Y-Y, Lieberam I ( 2023 ) . 3D Compartmentalised Human Pluripotent Stem Cell–derived Neuromuscular Co-cultures . Bio-protocol vol. 13 , ( 5 ) e4624 - e4624 .

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

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 .

Marino S ( 2021 ) . Comparative epigenetic analysis of tumour initiating cells and syngeneic EPSC‐derived neural stem cells in glioblastoma . Nature Communications

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 )

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 )

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

Kim J, Lana B, Ryan D, Konstantinidis E, Louzada S, Fu B, Yang F, Stemple DL et al. ( 2017 ) . D24 CRISPR-mediated genome editing in human induced pluripotent stem cells for modelling FKRP-deficient dystroglycanopathies . Neuromuscular Disorders . vol. 27 , s12 - s12 .

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

Bevan N, Bevan L, Brown S, van Bokhoven H, Campbell KP, Cirak S, Cisneros B, Colognato H et al. ( 2016 ) . 220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016 .

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 ,

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 . American Journal of Human Genetics 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 . Am J Hum Genet 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-<i>N</i>-acetylglucosaminyltransferase 1 (<i>B3GNT1</i>) 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 <i>B3GALNT2</i> Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan . AMERICAN JOURNAL OF HUMAN GENETICS vol. 92 , ( 3 ) 354 - 365 .

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 ,

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 .